Canonical Allele Identifier: CA379781428

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17414653C>A (hg19) ; chr11:g.17393106C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393106C>A , CM000673.2:g.17393106C>A	GRCh38
NC_000011.9:g.17414653C>A , CM000673.1:g.17414653C>A	GRCh37
NC_000011.8:g.17371229C>A	NCBI36
NG_008867.1:g.88797G>T
NG_012446.1:g.554G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4232G>T
ENST00000526037.6:n.566G>T
ENST00000528374.2:c.1222G>T
ENST00000529967.6:n.2970G>T
ENST00000532220.2:n.3864G>T
ENST00000642611.2:n.5964G>T
ENST00000644057.2:n.1207G>T
ENST00000645004.2:n.2130G>T
ENST00000682051.1:n.4793G>T
ENST00000682110.1:n.4846G>T
ENST00000682140.1:c.*417G>T	ENSP00000507829.1:n.*417G>T
ENST00000682185.1:n.5936G>T
ENST00000682204.1:c.*2769G>T	ENSP00000507094.1:n.*2769G>T
ENST00000682215.1:n.5213G>T
ENST00000682288.1:c.*3062G>T	ENSP00000507506.1:n.*3062G>T
ENST00000682442.1:n.5066G>T
ENST00000682528.1:n.4923G>T
ENST00000682673.1:n.4790G>T
ENST00000682805.1:n.5251G>T
ENST00000682965.1:c.*1053G>T	ENSP00000508229.1:n.*1053G>T
ENST00000683093.1:n.5826G>T
ENST00000683136.1:c.4514G>T	ENSP00000507768.1:p.Ser1505Ile
ENST00000683153.1:n.4888G>T
ENST00000683365.1:n.4948G>T
ENST00000683377.1:n.4742G>T
ENST00000683456.1:c.*1768G>T	ENSP00000508318.1:n.*1768G>T
ENST00000683522.1:n.4928G>T
ENST00000683562.1:c.*2696G>T	ENSP00000508265.1:n.*2696G>T
ENST00000683693.1:n.6307G>T
ENST00000683725.1:c.*96G>T	ENSP00000507496.1:n.*96G>T
ENST00000684010.1:n.4841G>T
ENST00000684014.1:n.818G>T
ENST00000684157.1:n.5831G>T
ENST00000684253.1:n.4749G>T
ENST00000684288.1:c.*2803G>T	ENSP00000507143.1:n.*2803G>T
ENST00000684313.1:n.4278G>T
ENST00000684332.1:n.4919G>T
ENST00000684371.1:n.4952G>T
ENST00000684404.1:n.5874G>T
ENST00000684442.1:n.5070G>T
ENST00000684555.1:c.*2843G>T	ENSP00000507705.1:n.*2843G>T
ENST00000684571.1:c.4472G>T	ENSP00000506935.1:p.Ser1491Ile
ENST00000684593.1:c.*4336G>T	ENSP00000507005.1:n.*4336G>T
ENST00000684711.1:c.*3027G>T	ENSP00000506841.1:n.*3027G>T
ENST00000302539.9:c.4634G>T	ENSP00000303960.4:p.Ser1545Ile
ENST00000389817.8:c.4631G>T MANE Select	ENSP00000374467.4:p.Ser1544Ile
ENST00000642271.1:c.4628G>T	ENSP00000493749.1:p.Ser1543Ile
ENST00000642579.1:c.2685G>T
ENST00000642611.1:n.5849G>T
ENST00000642902.1:c.4413G>T
ENST00000643260.1:c.4631G>T	ENSP00000494450.1:p.Ser1544Ile
ENST00000643562.1:c.*2753G>T	ENSP00000496124.1:n.*2753G>T
ENST00000643925.1:c.3208G>T
ENST00000644057.1:n.790G>T
ENST00000644484.1:c.*4017G>T	ENSP00000493558.1:n.*4017G>T
ENST00000644675.1:c.*2803G>T	ENSP00000494567.1:n.*2803G>T
ENST00000644757.1:c.*3203-126G>T	ENSP00000495085.1:n.*3203-126G>T
ENST00000644772.1:c.4697G>T	ENSP00000494321.1:p.Ser1566Ile
ENST00000645004.1:n.2324G>T
ENST00000645076.1:c.3726G>T
ENST00000645417.1:c.1819G>T
ENST00000645760.1:c.5052G>T
ENST00000645884.1:c.*1914G>T	ENSP00000495516.1:n.*1914G>T
ENST00000646003.1:c.*2653G>T	ENSP00000495259.1:n.*2653G>T
ENST00000646207.1:c.*3468G>T	ENSP00000495025.1:n.*3468G>T
ENST00000646276.1:c.*4035G>T	ENSP00000496070.1:n.*4035G>T
ENST00000646592.1:c.3937G>T
ENST00000646902.1:c.4598G>T	ENSP00000494101.1:p.Ser1533Ile
ENST00000646993.1:c.*3069G>T	ENSP00000493720.1:n.*3069G>T
ENST00000647015.1:c.4382G>T	ENSP00000495389.1:p.Ser1461Ile
ENST00000647086.1:c.*4217G>T	ENSP00000493677.1:n.*4217G>T
ENST00000647158.1:c.*2918G>T	ENSP00000495744.1:n.*2918G>T
ENST00000302539.8:c.4634G>T	ENSP00000303960.4:p.Ser1545Ile
ENST00000389817.7:c.4631G>T	ENSP00000374467.3:p.Ser1544Ile
ENST00000525022.1:n.610G>T
ENST00000526037.5:n.391G>T
ENST00000526168.5:c.419G>T
ENST00000531642.5:c.662G>T
NM_000352.4:c.4631G>T	NP_000343.2:p.Ser1544Ile
NM_001287174.1:c.4634G>T	NP_001274103.1:p.Ser1545Ile
XM_011520331.1:c.4631G>T	XP_011518633.1:p.Ser1544Ile
XM_011520333.1:c.3131G>T	XP_011518635.1:p.Ser1044Ile
XR_930890.1:n.4593G>T
NM_001351295.1:c.4697G>T	NP_001338224.1:p.Ser1566Ile
NM_001351296.1:c.4631G>T	NP_001338225.1:p.Ser1544Ile
NM_001351297.1:c.4628G>T	NP_001338226.1:p.Ser1543Ile
NR_147094.1:n.4926G>T
XM_017018197.2:c.4700G>T	XP_016873686.1:p.Ser1567Ile
XM_017018199.1:c.4697G>T	XP_016873688.1:p.Ser1566Ile
XM_017018202.1:c.3197G>T	XP_016873691.1:p.Ser1066Ile
XM_017018204.1:c.2588G>T	XP_016873693.1:p.Ser863Ile
XM_024448668.1:c.2999G>T	XP_024304436.1:p.Ser1000Ile
XR_001747945.2:n.4668G>T
XR_001747946.2:n.4599G>T
XR_002957189.1:n.6382G>T
NM_000352.6:c.4631G>T MANE Select	NP_000343.2:p.Ser1544Ile
NM_001287174.2:c.4634G>T	NP_001274103.1:p.Ser1545Ile
NM_001351295.2:c.4697G>T	NP_001338224.1:p.Ser1566Ile
NM_001351296.2:c.4631G>T	NP_001338225.1:p.Ser1544Ile
NM_001351297.2:c.4628G>T	NP_001338226.1:p.Ser1543Ile
NR_147094.2:n.4926G>T
NM_001287174.3:c.4634G>T	NP_001274103.1:p.Ser1545Ile