Canonical Allele Identifier: CA379782072

Gene: ABCC8

Linked Data

• dbSNP Id: rs2133393134
• MyVariant Identifiers: chr11:g.17415281A>G (hg19) ; chr11:g.17393734A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393734A>G , CM000673.2:g.17393734A>G	GRCh38
NC_000011.9:g.17415281A>G , CM000673.1:g.17415281A>G	GRCh37
NC_000011.8:g.17371857A>G	NCBI36
NG_008867.1:g.88169T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4172T>C
ENST00000526037.6:n.506T>C
ENST00000528374.2:c.1162T>C
ENST00000529967.6:n.2910T>C
ENST00000532220.2:n.3804T>C
ENST00000642611.2:n.5904T>C
ENST00000644057.2:n.1147T>C
ENST00000645004.2:n.2070T>C
ENST00000682051.1:n.4733T>C
ENST00000682110.1:n.4786T>C
ENST00000682140.1:c.*357T>C	ENSP00000507829.1:n.*357T>C
ENST00000682185.1:n.5876T>C
ENST00000682204.1:c.*2709T>C	ENSP00000507094.1:n.*2709T>C
ENST00000682215.1:n.5153T>C
ENST00000682288.1:c.*3002T>C	ENSP00000507506.1:n.*3002T>C
ENST00000682442.1:n.5006T>C
ENST00000682528.1:n.4863T>C
ENST00000682673.1:n.4730T>C
ENST00000682805.1:n.5191T>C
ENST00000682965.1:c.*993T>C	ENSP00000508229.1:n.*993T>C
ENST00000683093.1:n.5766T>C
ENST00000683136.1:c.4454T>C	ENSP00000507768.1:p.Met1485Thr
ENST00000683153.1:n.4828T>C
ENST00000683365.1:n.4888T>C
ENST00000683377.1:n.4682T>C
ENST00000683456.1:c.*1708T>C	ENSP00000508318.1:n.*1708T>C
ENST00000683522.1:n.4868T>C
ENST00000683562.1:c.*2636T>C	ENSP00000508265.1:n.*2636T>C
ENST00000683693.1:n.6247T>C
ENST00000683725.1:c.*36T>C	ENSP00000507496.1:n.*36T>C
ENST00000684010.1:n.4781T>C
ENST00000684014.1:n.758T>C
ENST00000684157.1:n.5771T>C
ENST00000684253.1:n.4689T>C
ENST00000684288.1:c.*2743T>C	ENSP00000507143.1:n.*2743T>C
ENST00000684313.1:n.4218T>C
ENST00000684332.1:n.4859T>C
ENST00000684371.1:n.4892T>C
ENST00000684404.1:n.5814T>C
ENST00000684442.1:n.5010T>C
ENST00000684555.1:c.*2783T>C	ENSP00000507705.1:n.*2783T>C
ENST00000684571.1:c.4412T>C	ENSP00000506935.1:p.Met1471Thr
ENST00000684593.1:c.*4276T>C	ENSP00000507005.1:n.*4276T>C
ENST00000684711.1:c.*2967T>C	ENSP00000506841.1:n.*2967T>C
ENST00000302539.9:c.4574T>C	ENSP00000303960.4:p.Met1525Thr
ENST00000389817.8:c.4571T>C MANE Select	ENSP00000374467.4:p.Met1524Thr
ENST00000642271.1:c.4568T>C	ENSP00000493749.1:p.Met1523Thr
ENST00000642579.1:c.2625T>C
ENST00000642611.1:n.5789T>C
ENST00000642902.1:c.4353T>C
ENST00000643260.1:c.4571T>C	ENSP00000494450.1:p.Met1524Thr
ENST00000643562.1:c.*2693T>C	ENSP00000496124.1:n.*2693T>C
ENST00000643925.1:c.3185+532T>C
ENST00000644057.1:n.730T>C
ENST00000644484.1:c.*3957T>C	ENSP00000493558.1:n.*3957T>C
ENST00000644675.1:c.*2743T>C	ENSP00000494567.1:n.*2743T>C
ENST00000644757.1:c.*3203-754T>C	ENSP00000495085.1:n.*3203-754T>C
ENST00000644772.1:c.4637T>C	ENSP00000494321.1:p.Met1546Thr
ENST00000645004.1:n.2264T>C
ENST00000645076.1:c.3666T>C
ENST00000645417.1:c.1759T>C
ENST00000645744.1:c.*4256T>C	ENSP00000494564.1:n.*4256T>C
ENST00000645760.1:c.4992T>C
ENST00000645884.1:c.*1854T>C	ENSP00000495516.1:n.*1854T>C
ENST00000646003.1:c.*2593T>C	ENSP00000495259.1:n.*2593T>C
ENST00000646207.1:c.*3408T>C	ENSP00000495025.1:n.*3408T>C
ENST00000646276.1:c.*3975T>C	ENSP00000496070.1:n.*3975T>C
ENST00000646592.1:c.3877T>C
ENST00000646902.1:c.4538T>C	ENSP00000494101.1:p.Met1513Thr
ENST00000646993.1:c.*3009T>C	ENSP00000493720.1:n.*3009T>C
ENST00000647015.1:c.4322T>C	ENSP00000495389.1:p.Met1441Thr
ENST00000647086.1:c.*4157T>C	ENSP00000493677.1:n.*4157T>C
ENST00000647158.1:c.*2858T>C	ENSP00000495744.1:n.*2858T>C
ENST00000302539.8:c.4574T>C	ENSP00000303960.4:p.Met1525Thr
ENST00000389817.7:c.4571T>C	ENSP00000374467.3:p.Met1524Thr
ENST00000525022.1:n.466T>C
ENST00000526037.5:n.331T>C
ENST00000526168.5:c.359T>C
ENST00000531642.5:c.602T>C
NM_000352.4:c.4571T>C	NP_000343.2:p.Met1524Thr
NM_001287174.1:c.4574T>C	NP_001274103.1:p.Met1525Thr
XM_011520331.1:c.4571T>C	XP_011518633.1:p.Met1524Thr
XM_011520333.1:c.3071T>C	XP_011518635.1:p.Met1024Thr
XR_930890.1:n.4533T>C
NM_001351295.1:c.4637T>C	NP_001338224.1:p.Met1546Thr
NM_001351296.1:c.4571T>C	NP_001338225.1:p.Met1524Thr
NM_001351297.1:c.4568T>C	NP_001338226.1:p.Met1523Thr
NR_147094.1:n.4866T>C
XM_017018197.2:c.4640T>C	XP_016873686.1:p.Met1547Thr
XM_017018199.1:c.4637T>C	XP_016873688.1:p.Met1546Thr
XM_017018202.1:c.3137T>C	XP_016873691.1:p.Met1046Thr
XM_017018204.1:c.2528T>C	XP_016873693.1:p.Met843Thr
XM_024448668.1:c.2939T>C	XP_024304436.1:p.Met980Thr
XR_001747945.2:n.4608T>C
XR_001747946.2:n.4539T>C
XR_002957189.1:n.6322T>C
NM_000352.6:c.4571T>C MANE Select	NP_000343.2:p.Met1524Thr
NM_001287174.2:c.4574T>C	NP_001274103.1:p.Met1525Thr
NM_001351295.2:c.4637T>C	NP_001338224.1:p.Met1546Thr
NM_001351296.2:c.4571T>C	NP_001338225.1:p.Met1524Thr
NM_001351297.2:c.4568T>C	NP_001338226.1:p.Met1523Thr
NR_147094.2:n.4866T>C
NM_001287174.3:c.4574T>C	NP_001274103.1:p.Met1525Thr