Canonical Allele Identifier: CA1955123943

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397023A= , CM000673.2:g.17397023A=	GRCh38
NC_000011.9:g.17418570A= , CM000673.1:g.17418570A=	GRCh37
NC_000011.8:g.17375146A=	NCBI36
NG_008867.1:g.84880T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3613T=
ENST00000528374.2:c.603T=
ENST00000529967.6:n.2351T=
ENST00000532220.2:n.2260T=
ENST00000642611.2:n.4227T=
ENST00000644057.2:n.455T=
ENST00000645004.2:n.1511T=
ENST00000682051.1:n.4174T=
ENST00000682110.1:n.4227T=
ENST00000682140.1:c.3985+170T=	ENSP00000507829.1:n.3985+170T=
ENST00000682185.1:n.5317T=
ENST00000682204.1:c.*2150T=	ENSP00000507094.1:n.*2150T=
ENST00000682215.1:n.4594T=
ENST00000682288.1:c.*2443T=	ENSP00000507506.1:n.*2443T=
ENST00000682442.1:n.4447T=
ENST00000682528.1:n.4304T=
ENST00000682673.1:n.4171T=
ENST00000682805.1:n.4594T=
ENST00000682965.1:c.*434T=	ENSP00000508229.1:n.*434T=
ENST00000683093.1:n.4326T=
ENST00000683136.1:c.3895T=	ENSP00000507768.1:p.Trp1299=
ENST00000683153.1:n.4269T=
ENST00000683365.1:n.4329T=
ENST00000683377.1:n.4227T=
ENST00000683456.1:c.*1149T=	ENSP00000508318.1:n.*1149T=
ENST00000683522.1:n.4227T=
ENST00000683562.1:c.*2181T=	ENSP00000508265.1:n.*2181T=
ENST00000683693.1:n.4674T=
ENST00000683725.1:c.4012T=	ENSP00000507496.1:p.Trp1338=
ENST00000684010.1:n.4222T=
ENST00000684157.1:n.4227T=
ENST00000684253.1:n.4130T=
ENST00000684288.1:c.*2184T=	ENSP00000507143.1:n.*2184T=
ENST00000684313.1:n.3659T=
ENST00000684332.1:n.4300T=
ENST00000684371.1:n.4333T=
ENST00000684404.1:n.4270T=
ENST00000684442.1:n.4451T=
ENST00000684555.1:c.*2224T=	ENSP00000507705.1:n.*2224T=
ENST00000684571.1:c.3853T=	ENSP00000506935.1:p.Trp1285=
ENST00000684593.1:c.*3717T=	ENSP00000507005.1:n.*3717T=
ENST00000684711.1:c.*2408T=	ENSP00000506841.1:n.*2408T=
ENST00000302539.9:c.4015T=	ENSP00000303960.4:p.Trp1339=
ENST00000389817.8:c.4012T= MANE Select	ENSP00000374467.4:p.Trp1338=
ENST00000642271.1:c.4009T=	ENSP00000493749.1:p.Trp1337=
ENST00000642579.1:c.2073-7T=
ENST00000642611.1:n.4112T=
ENST00000642902.1:c.3794T=
ENST00000643260.1:c.4012T=	ENSP00000494450.1:p.Trp1338=
ENST00000643562.1:c.*2134T=	ENSP00000496124.1:n.*2134T=
ENST00000643925.1:c.2652T=
ENST00000644057.1:n.89T=
ENST00000644484.1:c.*2413T=	ENSP00000493558.1:n.*2413T=
ENST00000644675.1:c.*2184T=	ENSP00000494567.1:n.*2184T=
ENST00000644757.1:c.*2443T=	ENSP00000495085.1:n.*2443T=
ENST00000644772.1:c.4078T=	ENSP00000494321.1:p.Trp1360=
ENST00000645004.1:n.1667T=
ENST00000645076.1:c.3211T=
ENST00000645417.1:c.1200T=
ENST00000645744.1:c.*2792T=	ENSP00000494564.1:n.*2792T=
ENST00000645760.1:c.4433T=
ENST00000645884.1:c.*1295T=	ENSP00000495516.1:n.*1295T=
ENST00000646003.1:c.*2114T=	ENSP00000495259.1:n.*2114T=
ENST00000646207.1:c.*2849T=	ENSP00000495025.1:n.*2849T=
ENST00000646276.1:c.*2431T=	ENSP00000496070.1:n.*2431T=
ENST00000646592.1:c.3318T=
ENST00000646902.1:c.3986-7T=	ENSP00000494101.1:n.3986-7T=
ENST00000646993.1:c.*2554T=	ENSP00000493720.1:n.*2554T=
ENST00000647013.1:c.4018T=	ENSP00000496741.1:n.4018T=
ENST00000647015.1:c.3763T=	ENSP00000495389.1:p.Trp1255=
ENST00000647086.1:c.*3605-7T=	ENSP00000493677.1:n.*3605-7T=
ENST00000647158.1:c.*2299T=	ENSP00000495744.1:n.*2299T=
ENST00000302539.8:c.4015T=	ENSP00000303960.4:p.Trp1339=
ENST00000389817.7:c.4012T=	ENSP00000374467.3:p.Trp1338=
ENST00000527905.5:c.*1034T=	ENSP00000431653.1:n.*1034T=
ENST00000528374.1:c.494T=
ENST00000531137.1:n.577T=
ENST00000531891.1:c.357-7T=
ENST00000532220.1:n.486T=
NM_000352.4:c.4012T=	NP_000343.2:p.Trp1338=
NM_001287174.1:c.4015T=	NP_001274103.1:p.Trp1339=
XM_011520331.1:c.4012T=	XP_011518633.1:p.Trp1338=
XM_011520332.1:c.4015T=	XP_011518634.1:p.Trp1339=
XM_011520333.1:c.2512T=	XP_011518635.1:p.Trp838=
XR_930890.1:n.4078T=
NM_001351295.1:c.4078T=	NP_001338224.1:p.Trp1360=
NM_001351296.1:c.4012T=	NP_001338225.1:p.Trp1338=
NM_001351297.1:c.4009T=	NP_001338226.1:p.Trp1337=
NR_147094.1:n.4307T=
XM_017018197.2:c.4081T=	XP_016873686.1:p.Trp1361=
XM_017018199.1:c.4078T=	XP_016873688.1:p.Trp1360=
XM_017018201.2:c.4081T=	XP_016873690.1:p.Trp1361=
XM_017018202.1:c.2578T=	XP_016873691.1:p.Trp860=
XM_017018204.1:c.1969T=	XP_016873693.1:p.Trp657=
XM_024448668.1:c.2380T=	XP_024304436.1:p.Trp794=
XR_001747945.2:n.4153T=
XR_001747946.2:n.4084T=
XR_002957189.1:n.4749T=
NM_000352.6:c.4012T= MANE Select	NP_000343.2:p.Trp1338=
NM_001287174.2:c.4015T=	NP_001274103.1:p.Trp1339=
NM_001351295.2:c.4078T=	NP_001338224.1:p.Trp1360=
NM_001351296.2:c.4012T=	NP_001338225.1:p.Trp1338=
NM_001351297.2:c.4009T=	NP_001338226.1:p.Trp1337=
NR_147094.2:n.4307T=
NM_001287174.3:c.4015T=	NP_001274103.1:p.Trp1339=