Canonical Allele Identifier: CA379783104

Gene: ABCC8

Linked Data

• COSMIC: COSM6426452
• MyVariant Identifiers: chr11:g.17415867C>A (hg19) ; chr11:g.17394320C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394320C>A , CM000673.2:g.17394320C>A	GRCh38
NC_000011.9:g.17415867C>A , CM000673.1:g.17415867C>A	GRCh37
NC_000011.8:g.17372443C>A	NCBI36
NG_008867.1:g.87583G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4092G>T
ENST00000526037.6:n.426G>T
ENST00000528374.2:c.1082G>T
ENST00000529967.6:n.2830G>T
ENST00000532220.2:n.3724G>T
ENST00000642611.2:n.5824G>T
ENST00000644057.2:n.1067G>T
ENST00000645004.2:n.1990G>T
ENST00000682051.1:n.4653G>T
ENST00000682110.1:n.4706G>T
ENST00000682140.1:c.*277G>T	ENSP00000507829.1:n.*277G>T
ENST00000682185.1:n.5796G>T
ENST00000682204.1:c.*2629G>T	ENSP00000507094.1:n.*2629G>T
ENST00000682215.1:n.5073G>T
ENST00000682288.1:c.*2922G>T	ENSP00000507506.1:n.*2922G>T
ENST00000682442.1:n.4926G>T
ENST00000682528.1:n.4783G>T
ENST00000682673.1:n.4650G>T
ENST00000682805.1:n.5111G>T
ENST00000682965.1:c.*913G>T	ENSP00000508229.1:n.*913G>T
ENST00000683093.1:n.5686G>T
ENST00000683136.1:c.4374G>T	ENSP00000507768.1:p.Arg1458Ser
ENST00000683153.1:n.4748G>T
ENST00000683365.1:n.4808G>T
ENST00000683377.1:n.4602G>T
ENST00000683456.1:c.*1628G>T	ENSP00000508318.1:n.*1628G>T
ENST00000683522.1:n.4788G>T
ENST00000683562.1:c.*2556G>T	ENSP00000508265.1:n.*2556G>T
ENST00000683693.1:n.6167G>T
ENST00000683725.1:c.4387G>T	ENSP00000507496.1:p.Glu1463Ter
ENST00000684010.1:n.4701G>T
ENST00000684014.1:n.678G>T
ENST00000684157.1:n.5691G>T
ENST00000684253.1:n.4609G>T
ENST00000684288.1:c.*2663G>T	ENSP00000507143.1:n.*2663G>T
ENST00000684313.1:n.4138G>T
ENST00000684332.1:n.4779G>T
ENST00000684371.1:n.4812G>T
ENST00000684404.1:n.5734G>T
ENST00000684442.1:n.4930G>T
ENST00000684555.1:c.*2703G>T	ENSP00000507705.1:n.*2703G>T
ENST00000684571.1:c.4332G>T	ENSP00000506935.1:p.Arg1444Ser
ENST00000684593.1:c.*4196G>T	ENSP00000507005.1:n.*4196G>T
ENST00000684711.1:c.*2887G>T	ENSP00000506841.1:n.*2887G>T
ENST00000302539.9:c.4494G>T	ENSP00000303960.4:p.Arg1498Ser
ENST00000389817.8:c.4491G>T MANE Select	ENSP00000374467.4:p.Arg1497Ser
ENST00000642271.1:c.4488G>T	ENSP00000493749.1:p.Arg1496Ser
ENST00000642579.1:c.2545G>T
ENST00000642611.1:n.5709G>T
ENST00000642902.1:c.4273G>T
ENST00000643260.1:c.4491G>T	ENSP00000494450.1:p.Arg1497Ser
ENST00000643562.1:c.*2613G>T	ENSP00000496124.1:n.*2613G>T
ENST00000643925.1:c.3131G>T
ENST00000644057.1:n.650G>T
ENST00000644484.1:c.*3877G>T	ENSP00000493558.1:n.*3877G>T
ENST00000644675.1:c.*2663G>T	ENSP00000494567.1:n.*2663G>T
ENST00000644757.1:c.*3203-1340G>T	ENSP00000495085.1:n.*3203-1340G>T
ENST00000644772.1:c.4557G>T	ENSP00000494321.1:p.Arg1519Ser
ENST00000645004.1:n.2184G>T
ENST00000645076.1:c.3586G>T
ENST00000645417.1:c.1679G>T
ENST00000645744.1:c.*4176G>T	ENSP00000494564.1:n.*4176G>T
ENST00000645760.1:c.4912G>T
ENST00000645884.1:c.*1774G>T	ENSP00000495516.1:n.*1774G>T
ENST00000646003.1:c.*2513G>T	ENSP00000495259.1:n.*2513G>T
ENST00000646207.1:c.*3328G>T	ENSP00000495025.1:n.*3328G>T
ENST00000646276.1:c.*3895G>T	ENSP00000496070.1:n.*3895G>T
ENST00000646592.1:c.3797G>T
ENST00000646902.1:c.4458G>T	ENSP00000494101.1:p.Arg1486Ser
ENST00000646993.1:c.*2929G>T	ENSP00000493720.1:n.*2929G>T
ENST00000647013.1:c.4497G>T	ENSP00000496741.1:n.4497G>T
ENST00000647015.1:c.4242G>T	ENSP00000495389.1:p.Arg1414Ser
ENST00000647086.1:c.*4077G>T	ENSP00000493677.1:n.*4077G>T
ENST00000647158.1:c.*2778G>T	ENSP00000495744.1:n.*2778G>T
ENST00000302539.8:c.4494G>T	ENSP00000303960.4:p.Arg1498Ser
ENST00000389817.7:c.4491G>T	ENSP00000374467.3:p.Arg1497Ser
ENST00000525022.1:n.386G>T
ENST00000526037.5:n.251G>T
ENST00000526168.5:c.279G>T
ENST00000531642.5:c.522G>T
NM_000352.4:c.4491G>T	NP_000343.2:p.Arg1497Ser
NM_001287174.1:c.4494G>T	NP_001274103.1:p.Arg1498Ser
XM_011520331.1:c.4491G>T	XP_011518633.1:p.Arg1497Ser
XM_011520332.1:c.4390G>T	XP_011518634.1:p.Glu1464Ter
XM_011520333.1:c.2991G>T	XP_011518635.1:p.Arg997Ser
XR_930890.1:n.4453G>T
NM_001351295.1:c.4557G>T	NP_001338224.1:p.Arg1519Ser
NM_001351296.1:c.4491G>T	NP_001338225.1:p.Arg1497Ser
NM_001351297.1:c.4488G>T	NP_001338226.1:p.Arg1496Ser
NR_147094.1:n.4786G>T
XM_017018197.2:c.4560G>T	XP_016873686.1:p.Arg1520Ser
XM_017018199.1:c.4557G>T	XP_016873688.1:p.Arg1519Ser
XM_017018201.2:c.4456G>T	XP_016873690.1:p.Glu1486Ter
XM_017018202.1:c.3057G>T	XP_016873691.1:p.Arg1019Ser
XM_017018204.1:c.2448G>T	XP_016873693.1:p.Arg816Ser
XM_024448668.1:c.2859G>T	XP_024304436.1:p.Arg953Ser
XR_001747945.2:n.4528G>T
XR_001747946.2:n.4459G>T
XR_002957189.1:n.6242G>T
NM_000352.6:c.4491G>T MANE Select	NP_000343.2:p.Arg1497Ser
NM_001287174.2:c.4494G>T	NP_001274103.1:p.Arg1498Ser
NM_001351295.2:c.4557G>T	NP_001338224.1:p.Arg1519Ser
NM_001351296.2:c.4491G>T	NP_001338225.1:p.Arg1497Ser
NM_001351297.2:c.4488G>T	NP_001338226.1:p.Arg1496Ser
NR_147094.2:n.4786G>T
NM_001287174.3:c.4494G>T	NP_001274103.1:p.Arg1498Ser