Canonical Allele Identifier: CA372667945

Gene: RECQL4

Linked Data

• MyVariant Identifiers: chr8:g.145737300C>A (hg19) ; chr8:g.144511917C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511917C>A , CM000670.2:g.144511917C>A	GRCh38
NC_000008.10:g.145737300C>A , CM000670.1:g.145737300C>A	GRCh37
NC_000008.9:g.145708108C>A	NCBI36
NG_016430.1:g.10910G>T
NG_016430.2:g.10910G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3387G>T MANE Select	ENSP00000482313.2:p.Gln1129His
ENST00000301323.7:c.404G>T
ENST00000529424.2:n.50-128G>T
ENST00000531875.2:c.633G>T	ENSP00000477910.1:p.Gln211His
ENST00000617875.4:c.3387G>T	ENSP00000482313.1:p.Gln1129His
ENST00000621189.4:c.2316G>T	ENSP00000483145.1:p.Gln772His
NM_004260.3:c.3387G>T	NP_004251.3:p.Gln1129His
XM_011517380.1:c.3462G>T	XP_011515682.1:p.Gln1154His
XM_011517381.1:c.3366G>T	XP_011515683.1:p.Gln1122His
XM_011517382.1:c.3270G>T	XP_011515684.1:p.Gln1090His
XM_011517383.1:c.3264G>T	XP_011515685.1:p.Gln1088His
XM_011517384.1:c.3189G>T	XP_011515686.1:p.Gln1063His
XM_011517385.1:c.2325G>T	XP_011515687.1:p.Gln775His
XR_928366.1:n.3353-128G>T
XR_928367.1:n.3442G>T
XR_928368.1:n.3335G>T
XM_011517384.3:c.3189G>T	XP_011515686.1:p.Gln1063His
XM_017013991.2:c.3552G>T	XP_016869480.1:p.Gln1184His
XM_017013992.2:c.3477G>T	XP_016869481.1:p.Gln1159His
XM_017013993.2:c.3462G>T	XP_016869482.1:p.Gln1154His
XM_017013994.2:c.3456G>T	XP_016869483.1:p.Gln1152His
XM_017013995.2:c.3387G>T	XP_016869484.1:p.Gln1129His
XM_017013996.2:c.3552G>T	XP_016869485.1:p.Gln1184His
XM_017013997.2:c.3354G>T	XP_016869486.1:p.Gln1118His
XM_017013998.1:c.3477G>T	XP_016869487.1:p.Gln1159His
XM_017013999.2:c.3264G>T	XP_016869488.1:p.Gln1088His
XM_017014000.1:c.2415G>T	XP_016869489.1:p.Gln805His
XM_017014001.2:c.2325G>T	XP_016869490.1:p.Gln775His
XR_001745626.2:n.3439-128G>T
XR_001745627.2:n.3528G>T
XR_001745628.2:n.3419G>T
XR_001745629.2:n.3282G>T
XR_001745630.2:n.3084G>T
NM_004260.4:c.3387G>T MANE Select	NP_004251.4:p.Gln1129His