Canonical Allele Identifier: CA379783533

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1338647
• ClinVar RCV Id: RCV001818018
• dbSNP Id: rs2133395244
• MyVariant Identifiers: chr11:g.17415914T>G (hg19) ; chr11:g.17394367T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394367T>G , CM000673.2:g.17394367T>G	GRCh38
NC_000011.9:g.17415914T>G , CM000673.1:g.17415914T>G	GRCh37
NC_000011.8:g.17372490T>G	NCBI36
NG_008867.1:g.87536A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4045A>C
ENST00000526037.6:n.379A>C
ENST00000528374.2:c.1035A>C
ENST00000529967.6:n.2783A>C
ENST00000532220.2:n.3677A>C
ENST00000642611.2:n.5777A>C
ENST00000644057.2:n.1020A>C
ENST00000645004.2:n.1943A>C
ENST00000682051.1:n.4606A>C
ENST00000682110.1:n.4659A>C
ENST00000682140.1:c.*230A>C	ENSP00000507829.1:n.*230A>C
ENST00000682185.1:n.5749A>C
ENST00000682204.1:c.*2582A>C	ENSP00000507094.1:n.*2582A>C
ENST00000682215.1:n.5026A>C
ENST00000682288.1:c.*2875A>C	ENSP00000507506.1:n.*2875A>C
ENST00000682442.1:n.4879A>C
ENST00000682528.1:n.4736A>C
ENST00000682673.1:n.4603A>C
ENST00000682805.1:n.5064A>C
ENST00000682965.1:c.*866A>C	ENSP00000508229.1:n.*866A>C
ENST00000683093.1:n.5639A>C
ENST00000683136.1:c.4327A>C	ENSP00000507768.1:p.Ser1443Arg
ENST00000683153.1:n.4701A>C
ENST00000683365.1:n.4761A>C
ENST00000683377.1:n.4555A>C
ENST00000683456.1:c.*1581A>C	ENSP00000508318.1:n.*1581A>C
ENST00000683522.1:n.4741A>C
ENST00000683562.1:c.*2509A>C	ENSP00000508265.1:n.*2509A>C
ENST00000683693.1:n.6120A>C
ENST00000683725.1:c.4340A>C	ENSP00000507496.1:p.Gln1447Pro
ENST00000684010.1:n.4654A>C
ENST00000684014.1:n.631A>C
ENST00000684157.1:n.5644A>C
ENST00000684253.1:n.4562A>C
ENST00000684288.1:c.*2616A>C	ENSP00000507143.1:n.*2616A>C
ENST00000684313.1:n.4091A>C
ENST00000684332.1:n.4732A>C
ENST00000684371.1:n.4765A>C
ENST00000684404.1:n.5687A>C
ENST00000684442.1:n.4883A>C
ENST00000684555.1:c.*2656A>C	ENSP00000507705.1:n.*2656A>C
ENST00000684571.1:c.4285A>C	ENSP00000506935.1:p.Ser1429Arg
ENST00000684593.1:c.*4149A>C	ENSP00000507005.1:n.*4149A>C
ENST00000684711.1:c.*2840A>C	ENSP00000506841.1:n.*2840A>C
ENST00000302539.9:c.4447A>C	ENSP00000303960.4:p.Ser1483Arg
ENST00000389817.8:c.4444A>C MANE Select	ENSP00000374467.4:p.Ser1482Arg
ENST00000642271.1:c.4441A>C	ENSP00000493749.1:p.Ser1481Arg
ENST00000642579.1:c.2498A>C
ENST00000642611.1:n.5662A>C
ENST00000642902.1:c.4226A>C
ENST00000643260.1:c.4444A>C	ENSP00000494450.1:p.Ser1482Arg
ENST00000643562.1:c.*2566A>C	ENSP00000496124.1:n.*2566A>C
ENST00000643925.1:c.3084A>C
ENST00000644057.1:n.603A>C
ENST00000644484.1:c.*3830A>C	ENSP00000493558.1:n.*3830A>C
ENST00000644675.1:c.*2616A>C	ENSP00000494567.1:n.*2616A>C
ENST00000644757.1:c.*3203-1387A>C	ENSP00000495085.1:n.*3203-1387A>C
ENST00000644772.1:c.4510A>C	ENSP00000494321.1:p.Ser1504Arg
ENST00000645004.1:n.2137A>C
ENST00000645076.1:c.3539A>C
ENST00000645417.1:c.1632A>C
ENST00000645744.1:c.*4129A>C	ENSP00000494564.1:n.*4129A>C
ENST00000645760.1:c.4865A>C
ENST00000645884.1:c.*1727A>C	ENSP00000495516.1:n.*1727A>C
ENST00000646003.1:c.*2466A>C	ENSP00000495259.1:n.*2466A>C
ENST00000646207.1:c.*3281A>C	ENSP00000495025.1:n.*3281A>C
ENST00000646276.1:c.*3848A>C	ENSP00000496070.1:n.*3848A>C
ENST00000646592.1:c.3750A>C
ENST00000646902.1:c.4411A>C	ENSP00000494101.1:p.Ser1471Arg
ENST00000646993.1:c.*2882A>C	ENSP00000493720.1:n.*2882A>C
ENST00000647013.1:c.4450A>C	ENSP00000496741.1:n.4450A>C
ENST00000647015.1:c.4195A>C	ENSP00000495389.1:p.Ser1399Arg
ENST00000647086.1:c.*4030A>C	ENSP00000493677.1:n.*4030A>C
ENST00000647158.1:c.*2731A>C	ENSP00000495744.1:n.*2731A>C
ENST00000302539.8:c.4447A>C	ENSP00000303960.4:p.Ser1483Arg
ENST00000389817.7:c.4444A>C	ENSP00000374467.3:p.Ser1482Arg
ENST00000525022.1:n.339A>C
ENST00000526037.5:n.204A>C
ENST00000526168.5:c.232A>C
ENST00000531642.5:c.475A>C
NM_000352.4:c.4444A>C	NP_000343.2:p.Ser1482Arg
NM_001287174.1:c.4447A>C	NP_001274103.1:p.Ser1483Arg
XM_011520331.1:c.4444A>C	XP_011518633.1:p.Ser1482Arg
XM_011520332.1:c.4343A>C	XP_011518634.1:p.Gln1448Pro
XM_011520333.1:c.2944A>C	XP_011518635.1:p.Ser982Arg
XR_930890.1:n.4406A>C
NM_001351295.1:c.4510A>C	NP_001338224.1:p.Ser1504Arg
NM_001351296.1:c.4444A>C	NP_001338225.1:p.Ser1482Arg
NM_001351297.1:c.4441A>C	NP_001338226.1:p.Ser1481Arg
NR_147094.1:n.4739A>C
XM_017018197.2:c.4513A>C	XP_016873686.1:p.Ser1505Arg
XM_017018199.1:c.4510A>C	XP_016873688.1:p.Ser1504Arg
XM_017018201.2:c.4409A>C	XP_016873690.1:p.Gln1470Pro
XM_017018202.1:c.3010A>C	XP_016873691.1:p.Ser1004Arg
XM_017018204.1:c.2401A>C	XP_016873693.1:p.Ser801Arg
XM_024448668.1:c.2812A>C	XP_024304436.1:p.Ser938Arg
XR_001747945.2:n.4481A>C
XR_001747946.2:n.4412A>C
XR_002957189.1:n.6195A>C
NM_000352.6:c.4444A>C MANE Select	NP_000343.2:p.Ser1482Arg
NM_001287174.2:c.4447A>C	NP_001274103.1:p.Ser1483Arg
NM_001351295.2:c.4510A>C	NP_001338224.1:p.Ser1504Arg
NM_001351296.2:c.4444A>C	NP_001338225.1:p.Ser1482Arg
NM_001351297.2:c.4441A>C	NP_001338226.1:p.Ser1481Arg
NR_147094.2:n.4739A>C
NM_001287174.3:c.4447A>C	NP_001274103.1:p.Ser1483Arg