Canonical Allele Identifier: CA5903364

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428371C>T , CM000673.2:g.17428371C>T	GRCh38
NC_000011.9:g.17449918C>T , CM000673.1:g.17449918C>T	GRCh37
NC_000011.8:g.17406494C>T	NCBI36
NG_008867.1:g.53532G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.1958G>A MANE Select	NP_000343.2:p.Arg653Gln
ENST00000389817.8:c.1958G>A MANE Select	ENSP00000374467.4:p.Arg653Gln
NM_000352.4:c.1958G>A	NP_000343.2:p.Arg653Gln
NM_001287174.1:c.1958G>A	NP_001274103.1:p.Arg653Gln
NM_001287174.2:c.1958G>A	NP_001274103.1:p.Arg653Gln
NM_001287174.3:c.1958G>A	NP_001274103.1:p.Arg653Gln
NM_001351295.1:c.2024G>A	NP_001338224.1:p.Arg675Gln
NM_001351295.2:c.2024G>A	NP_001338224.1:p.Arg675Gln
NM_001351296.1:c.1955G>A	NP_001338225.1:p.Arg652Gln
NM_001351296.2:c.1955G>A	NP_001338225.1:p.Arg652Gln
NM_001351297.1:c.1955G>A	NP_001338226.1:p.Arg652Gln
NM_001351297.2:c.1955G>A	NP_001338226.1:p.Arg652Gln
NR_147094.1:n.2024G>A
NR_147094.2:n.2024G>A
ENST00000302539.8:c.1958G>A	ENSP00000303960.4:p.Arg653Gln
ENST00000302539.9:c.1958G>A	ENSP00000303960.4:p.Arg653Gln
ENST00000389817.7:c.1958G>A	ENSP00000374467.3:p.Arg653Gln
ENST00000524561.2:n.1627G>A
ENST00000527905.5:c.1928G>A	ENSP00000431653.1:p.Arg643Gln
ENST00000529967.6:n.217G>A
ENST00000532728.6:c.1539G>A
ENST00000642271.1:c.1955G>A	ENSP00000493749.1:p.Arg652Gln
ENST00000642579.1:c.39G>A
ENST00000642611.1:n.1909G>A
ENST00000642611.2:n.2024G>A
ENST00000642902.1:c.1793G>A
ENST00000643260.1:c.1955G>A	ENSP00000494450.1:p.Arg652Gln
ENST00000643562.1:c.1950G>A	ENSP00000496124.1:p.Pro650=
ENST00000644447.1:c.311G>A	ENSP00000496282.1:p.Arg104Gln
ENST00000644472.1:c.*319G>A	ENSP00000495378.1:n.*319G>A
ENST00000644484.1:c.*167G>A	ENSP00000493558.1:n.*167G>A
ENST00000644542.1:c.*1660G>A	ENSP00000495532.1:n.*1660G>A
ENST00000644649.1:c.1128G>A
ENST00000644675.1:c.*127G>A	ENSP00000494567.1:n.*127G>A
ENST00000644757.1:c.*260G>A	ENSP00000495085.1:n.*260G>A
ENST00000644772.1:c.2024G>A	ENSP00000494321.1:p.Arg675Gln
ENST00000645076.1:c.1210G>A
ENST00000645744.1:c.*319G>A	ENSP00000494564.1:n.*319G>A
ENST00000645760.1:c.2233G>A
ENST00000645884.1:c.1955G>A	ENSP00000495516.1:p.Arg652Gln
ENST00000646003.1:c.*96G>A	ENSP00000495259.1:n.*96G>A
ENST00000646207.1:c.*319G>A	ENSP00000495025.1:n.*319G>A
ENST00000646276.1:c.*228G>A	ENSP00000496070.1:n.*228G>A
ENST00000646592.1:c.1181G>A
ENST00000646902.1:c.1955G>A	ENSP00000494101.1:p.Arg652Gln
ENST00000646993.1:c.*354G>A	ENSP00000493720.1:n.*354G>A
ENST00000647013.1:c.1961G>A	ENSP00000496741.1:n.1961G>A
ENST00000647015.1:c.1706G>A	ENSP00000495389.1:p.Arg569Gln
ENST00000647086.1:c.*1685G>A	ENSP00000493677.1:n.*1685G>A
ENST00000647158.1:c.*96G>A	ENSP00000495744.1:n.*96G>A
ENST00000682051.1:n.1971G>A
ENST00000682110.1:n.2024G>A
ENST00000682140.1:c.1955G>A	ENSP00000507829.1:p.Arg652Gln
ENST00000682185.1:n.3263G>A
ENST00000682204.1:c.*96G>A	ENSP00000507094.1:n.*96G>A
ENST00000682215.1:n.2024G>A
ENST00000682288.1:c.*386G>A	ENSP00000507506.1:n.*386G>A
ENST00000682442.1:n.2145G>A
ENST00000682528.1:n.2024G>A
ENST00000682673.1:n.1971G>A
ENST00000682805.1:n.2024G>A
ENST00000682965.1:c.1955G>A	ENSP00000508229.1:p.Arg652Gln
ENST00000683093.1:n.2126G>A
ENST00000683136.1:c.1955G>A	ENSP00000507768.1:p.Arg652Gln
ENST00000683153.1:n.2183G>A
ENST00000683253.1:n.3040G>A
ENST00000683365.1:n.2126G>A
ENST00000683377.1:n.2024G>A
ENST00000683456.1:c.1955G>A	ENSP00000508318.1:p.Arg652Gln
ENST00000683522.1:n.2024G>A
ENST00000683562.1:c.*127G>A	ENSP00000508265.1:n.*127G>A
ENST00000683693.1:n.2024G>A
ENST00000683725.1:c.1958G>A	ENSP00000507496.1:p.Arg653Gln
ENST00000684010.1:n.2024G>A
ENST00000684157.1:n.2024G>A
ENST00000684253.1:n.1930G>A
ENST00000684288.1:c.*127G>A	ENSP00000507143.1:n.*127G>A
ENST00000684313.1:n.1724-11409G>A
ENST00000684332.1:n.2097G>A
ENST00000684371.1:n.2130G>A
ENST00000684404.1:n.2024G>A
ENST00000684442.1:n.2024G>A
ENST00000684555.1:c.*167G>A	ENSP00000507705.1:n.*167G>A
ENST00000684571.1:c.1799G>A	ENSP00000506935.1:p.Arg600Gln
ENST00000684593.1:c.*1663G>A	ENSP00000507005.1:n.*1663G>A
ENST00000684711.1:c.*354G>A	ENSP00000506841.1:n.*354G>A
XM_011520331.1:c.1955G>A	XP_011518633.1:p.Arg652Gln
XM_011520332.1:c.1958G>A	XP_011518634.1:p.Arg653Gln
XM_011520333.1:c.455G>A	XP_011518635.1:p.Arg152Gln
XM_011520334.1:c.1958G>A	XP_011518636.1:p.Arg653Gln
XM_017018197.2:c.2024G>A	XP_016873686.1:p.Arg675Gln
XM_017018199.1:c.2021G>A	XP_016873688.1:p.Arg674Gln
XM_017018201.2:c.2024G>A	XP_016873690.1:p.Arg675Gln
XM_017018202.1:c.521G>A	XP_016873691.1:p.Arg174Gln
XM_017018204.1:c.-86G>A	XP_016873693.1:n.-86G>A
XM_024448668.1:c.323G>A	XP_024304436.1:p.Arg108Gln
XR_001747945.2:n.2096G>A
XR_001747946.2:n.2030G>A
XR_002957189.1:n.2096G>A
XR_930890.1:n.2021G>A
XR_930891.1:n.2021G>A
XR_930892.1:n.2021G>A
XR_930893.1:n.2021G>A