Canonical Allele Identifier: CA2192292

Gene: LRRFIP1

Linked Data

• dbSNP Id: rs780730875
• ExAC: 2:238672548 A / G
• gnomAD v2: 2-238672548-A-G
• gnomAD v3: 2-237763905-A-G
• gnomAD v4: 2-237763905-A-G
• MyVariant Identifiers: chr2:g.238672548A>G (hg19) ; chr2:g.237763905A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763905A>G , CM000664.2:g.237763905A>G	GRCh38
NC_000002.11:g.238672548A>G , CM000664.1:g.238672548A>G	GRCh37
NC_000002.10:g.238337287A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3700A>G
ENST00000698098.1:c.955+3700A>G	ENSP00000513562.1:n.955+3700A>G
ENST00000308482.14:c.1459+3700A>G MANE Select	ENSP00000310109.9:n.1459+3700A>G
ENST00000244815.9:c.2120A>G	ENSP00000244815.5:p.His707Arg
ENST00000289175.10:c.2024A>G	ENSP00000289175.6:p.His675Arg
ENST00000308482.13:c.1459+3700A>G	ENSP00000310109.9:n.1459+3700A>G
ENST00000392000.4:c.2192A>G	ENSP00000375857.4:p.His731Arg
ENST00000483443.1:n.235+3700A>G
NM_001137550.1:c.1459+3700A>G	NP_001131022.1:n.1459+3700A>G
NM_001137551.1:c.721+3700A>G	NP_001131023.1:n.721+3700A>G
NM_001137552.1:c.2192A>G	NP_001131024.1:p.His731Arg
NM_001137553.1:c.2024A>G	NP_001131025.1:p.His675Arg
NM_004735.3:c.2120A>G	NP_004726.2:p.His707Arg
XM_005246112.3:c.2825A>G	XP_005246169.1:p.His942Arg
XM_005246115.3:c.2780A>G	XP_005246172.1:p.His927Arg
XM_005246116.3:c.2762A>G	XP_005246173.1:p.His921Arg
XM_005246118.3:c.2717A>G	XP_005246175.1:p.His906Arg
XM_005246119.3:c.2714A>G	XP_005246176.1:p.His905Arg
XM_005246120.3:c.2678A>G	XP_005246177.1:p.His893Arg
XM_005246121.3:c.2663A>G	XP_005246178.1:p.His888Arg
XM_005246122.3:c.2651A>G	XP_005246179.1:p.His884Arg
XM_005246124.1:c.2633A>G	XP_005246181.1:p.His878Arg
XM_005246125.3:c.2612A>G	XP_005246182.1:p.His871Arg
XM_005246126.3:c.2573A>G	XP_005246183.1:p.His858Arg
XM_005246128.1:c.2540A>G	XP_005246185.1:p.His847Arg
XM_005246129.3:c.2501A>G	XP_005246186.1:p.His834Arg
XM_005246130.3:c.2474A>G	XP_005246187.1:p.His825Arg
XM_005246131.3:c.2387A>G	XP_005246188.1:p.His796Arg
XM_005246132.3:c.2312A>G	XP_005246189.1:p.His771Arg
XM_005246133.1:c.2282A>G	XP_005246190.1:p.His761Arg
XM_005246134.1:c.2240A>G	XP_005246191.1:p.His747Arg
XM_005246135.1:c.2210A>G	XP_005246192.1:p.His737Arg
XM_005246136.1:c.2054A>G	XP_005246193.1:p.His685Arg
XM_005246141.3:c.823+3700A>G	XP_005246198.1:n.823+3700A>G
XM_005246142.1:c.751+3700A>G	XP_005246199.1:n.751+3700A>G
XM_006712842.2:c.2723A>G	XP_006712905.1:p.His908Arg
XM_006712843.2:c.2618A>G	XP_006712906.1:p.His873Arg
XM_006712844.1:c.2552A>G	XP_006712907.1:p.His851Arg
XM_006712845.2:c.2534A>G	XP_006712908.1:p.His845Arg
XM_006712846.1:c.2438A>G	XP_006712909.1:p.His813Arg
XM_006712847.1:c.2378A>G	XP_006712910.1:p.His793Arg
XM_006712848.1:c.2306A>G	XP_006712911.1:p.His769Arg
XM_011512152.1:c.2858A>G	XP_011510454.1:p.His953Arg
XM_011512153.1:c.2840A>G	XP_011510455.1:p.His947Arg
XM_011512154.1:c.2828A>G	XP_011510456.1:p.His943Arg
XM_011512155.1:c.2819A>G	XP_011510457.1:p.His940Arg
XM_011512156.1:c.2786A>G	XP_011510458.1:p.His929Arg
XM_011512157.1:c.2672A>G	XP_011510459.1:p.His891Arg
XM_011512158.1:c.2600A>G	XP_011510460.1:p.His867Arg
XM_011512159.1:c.2408A>G	XP_011510461.1:p.His803Arg
XM_011512160.1:c.1555+3700A>G	XP_011510462.1:n.1555+3700A>G
XM_011512161.1:c.1555+3700A>G	XP_011510463.1:n.1555+3700A>G
XM_011512162.1:c.1369+3700A>G	XP_011510464.1:n.1369+3700A>G
XM_011512163.1:c.1297+3700A>G	XP_011510465.1:n.1297+3700A>G
XM_011512164.1:c.751+3700A>G	XP_011510466.1:n.751+3700A>G
XM_011512165.1:c.721+3700A>G	XP_011510467.1:n.721+3700A>G
XM_011512166.1:c.1516+3700A>G	XP_011510468.1:n.1516+3700A>G
XR_923063.1:n.1605+3700A>G
XM_005246141.4:c.823+3700A>G	XP_005246198.1:n.823+3700A>G
XM_005246142.2:c.751+3700A>G	XP_005246199.1:n.751+3700A>G
XM_017005253.2:c.1522+3700A>G	XP_016860742.1:n.1522+3700A>G
XM_017005254.2:c.1522+3700A>G	XP_016860743.1:n.1522+3700A>G
XM_017005255.2:c.1450+3700A>G	XP_016860744.1:n.1450+3700A>G
XM_017005256.2:c.1336+3700A>G	XP_016860745.1:n.1336+3700A>G
XM_017005257.2:c.1387+3700A>G	XP_016860746.1:n.1387+3700A>G
XM_017005258.2:c.1336+3700A>G	XP_016860747.1:n.1336+3700A>G
XM_017005260.2:c.1162+3700A>G	XP_016860749.1:n.1162+3700A>G
XM_017005261.2:c.1099+3700A>G	XP_016860750.1:n.1099+3700A>G
XM_017005262.2:c.1099+3700A>G	XP_016860751.1:n.1099+3700A>G
XM_017005263.2:c.937+3700A>G	XP_016860752.1:n.937+3700A>G
XR_001739039.2:n.2894A>G
XR_001739040.1:n.3059A>G
XR_001739041.2:n.2855A>G
XR_001739042.2:n.2831A>G
XR_001739043.1:n.2807A>G
XR_001739044.2:n.2822A>G
XR_001739045.2:n.2792A>G
XR_001739046.1:n.3139A>G
XR_001739047.2:n.2708A>G
XR_001739048.1:n.2897A>G
XR_001739049.2:n.2642A>G
XR_001739050.2:n.2603A>G
XR_001739051.2:n.2570A>G
XR_001739052.2:n.2543A>G
XR_001739053.1:n.2532A>G
XR_001739054.1:n.2454A>G
XR_001739055.2:n.2471A>G
XR_001739056.2:n.2456A>G
XR_001739057.1:n.2472A>G
XR_001739058.1:n.2651A>G
XR_001739059.2:n.2384A>G
XR_001739060.1:n.2358A>G
XR_001739061.1:n.2400A>G
XR_001739062.1:n.2577A>G
XR_001739063.1:n.2284A>G
XR_001739064.1:n.2545A>G
XR_001739065.1:n.2489A>G
XR_001739066.1:n.2286A>G
XR_001739067.1:n.2193A>G
XR_001739068.1:n.2214A>G
XR_001739069.1:n.2391A>G
XR_001739070.1:n.2255A>G
XR_001739071.1:n.2113A>G
XR_001739072.1:n.2359A>G
XR_001739073.2:n.1591+3700A>G
XR_002959364.1:n.2285A>G
NM_001137550.2:c.1459+3700A>G MANE Select	NP_001131022.1:n.1459+3700A>G
NM_001137552.2:c.2192A>G	NP_001131024.1:p.His731Arg
NM_001137553.2:c.2024A>G	NP_001131025.1:p.His675Arg
NM_004735.4:c.2120A>G	NP_004726.2:p.His707Arg
NM_001137551.2:c.721+3700A>G	NP_001131023.1:n.721+3700A>G