Canonical Allele Identifier: CA379781888

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415258C>A (hg19) ; chr11:g.17393711C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393711C>A , CM000673.2:g.17393711C>A	GRCh38
NC_000011.9:g.17415258C>A , CM000673.1:g.17415258C>A	GRCh37
NC_000011.8:g.17371834C>A	NCBI36
NG_008867.1:g.88192G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4195G>T
ENST00000526037.6:n.529G>T
ENST00000528374.2:c.1185G>T
ENST00000529967.6:n.2933G>T
ENST00000532220.2:n.3827G>T
ENST00000642611.2:n.5927G>T
ENST00000644057.2:n.1170G>T
ENST00000645004.2:n.2093G>T
ENST00000682051.1:n.4756G>T
ENST00000682110.1:n.4809G>T
ENST00000682140.1:c.*380G>T	ENSP00000507829.1:n.*380G>T
ENST00000682185.1:n.5899G>T
ENST00000682204.1:c.*2732G>T	ENSP00000507094.1:n.*2732G>T
ENST00000682215.1:n.5176G>T
ENST00000682288.1:c.*3025G>T	ENSP00000507506.1:n.*3025G>T
ENST00000682442.1:n.5029G>T
ENST00000682528.1:n.4886G>T
ENST00000682673.1:n.4753G>T
ENST00000682805.1:n.5214G>T
ENST00000682965.1:c.*1016G>T	ENSP00000508229.1:n.*1016G>T
ENST00000683093.1:n.5789G>T
ENST00000683136.1:c.4477G>T	ENSP00000507768.1:p.Val1493Leu
ENST00000683153.1:n.4851G>T
ENST00000683365.1:n.4911G>T
ENST00000683377.1:n.4705G>T
ENST00000683456.1:c.*1731G>T	ENSP00000508318.1:n.*1731G>T
ENST00000683522.1:n.4891G>T
ENST00000683562.1:c.*2659G>T	ENSP00000508265.1:n.*2659G>T
ENST00000683693.1:n.6270G>T
ENST00000683725.1:c.*59G>T	ENSP00000507496.1:n.*59G>T
ENST00000684010.1:n.4804G>T
ENST00000684014.1:n.781G>T
ENST00000684157.1:n.5794G>T
ENST00000684253.1:n.4712G>T
ENST00000684288.1:c.*2766G>T	ENSP00000507143.1:n.*2766G>T
ENST00000684313.1:n.4241G>T
ENST00000684332.1:n.4882G>T
ENST00000684371.1:n.4915G>T
ENST00000684404.1:n.5837G>T
ENST00000684442.1:n.5033G>T
ENST00000684555.1:c.*2806G>T	ENSP00000507705.1:n.*2806G>T
ENST00000684571.1:c.4435G>T	ENSP00000506935.1:p.Val1479Leu
ENST00000684593.1:c.*4299G>T	ENSP00000507005.1:n.*4299G>T
ENST00000684711.1:c.*2990G>T	ENSP00000506841.1:n.*2990G>T
ENST00000302539.9:c.4597G>T	ENSP00000303960.4:p.Val1533Leu
ENST00000389817.8:c.4594G>T MANE Select	ENSP00000374467.4:p.Val1532Leu
ENST00000642271.1:c.4591G>T	ENSP00000493749.1:p.Val1531Leu
ENST00000642579.1:c.2648G>T
ENST00000642611.1:n.5812G>T
ENST00000642902.1:c.4376G>T
ENST00000643260.1:c.4594G>T	ENSP00000494450.1:p.Val1532Leu
ENST00000643562.1:c.*2716G>T	ENSP00000496124.1:n.*2716G>T
ENST00000643925.1:c.3185+555G>T
ENST00000644057.1:n.753G>T
ENST00000644484.1:c.*3980G>T	ENSP00000493558.1:n.*3980G>T
ENST00000644675.1:c.*2766G>T	ENSP00000494567.1:n.*2766G>T
ENST00000644757.1:c.*3203-731G>T	ENSP00000495085.1:n.*3203-731G>T
ENST00000644772.1:c.4660G>T	ENSP00000494321.1:p.Val1554Leu
ENST00000645004.1:n.2287G>T
ENST00000645076.1:c.3689G>T
ENST00000645417.1:c.1782G>T
ENST00000645744.1:c.*4279G>T	ENSP00000494564.1:n.*4279G>T
ENST00000645760.1:c.5015G>T
ENST00000645884.1:c.*1877G>T	ENSP00000495516.1:n.*1877G>T
ENST00000646003.1:c.*2616G>T	ENSP00000495259.1:n.*2616G>T
ENST00000646207.1:c.*3431G>T	ENSP00000495025.1:n.*3431G>T
ENST00000646276.1:c.*3998G>T	ENSP00000496070.1:n.*3998G>T
ENST00000646592.1:c.3900G>T
ENST00000646902.1:c.4561G>T	ENSP00000494101.1:p.Val1521Leu
ENST00000646993.1:c.*3032G>T	ENSP00000493720.1:n.*3032G>T
ENST00000647015.1:c.4345G>T	ENSP00000495389.1:p.Val1449Leu
ENST00000647086.1:c.*4180G>T	ENSP00000493677.1:n.*4180G>T
ENST00000647158.1:c.*2881G>T	ENSP00000495744.1:n.*2881G>T
ENST00000302539.8:c.4597G>T	ENSP00000303960.4:p.Val1533Leu
ENST00000389817.7:c.4594G>T	ENSP00000374467.3:p.Val1532Leu
ENST00000525022.1:n.489G>T
ENST00000526037.5:n.354G>T
ENST00000526168.5:c.382G>T
ENST00000531642.5:c.625G>T
NM_000352.4:c.4594G>T	NP_000343.2:p.Val1532Leu
NM_001287174.1:c.4597G>T	NP_001274103.1:p.Val1533Leu
XM_011520331.1:c.4594G>T	XP_011518633.1:p.Val1532Leu
XM_011520333.1:c.3094G>T	XP_011518635.1:p.Val1032Leu
XR_930890.1:n.4556G>T
NM_001351295.1:c.4660G>T	NP_001338224.1:p.Val1554Leu
NM_001351296.1:c.4594G>T	NP_001338225.1:p.Val1532Leu
NM_001351297.1:c.4591G>T	NP_001338226.1:p.Val1531Leu
NR_147094.1:n.4889G>T
XM_017018197.2:c.4663G>T	XP_016873686.1:p.Val1555Leu
XM_017018199.1:c.4660G>T	XP_016873688.1:p.Val1554Leu
XM_017018202.1:c.3160G>T	XP_016873691.1:p.Val1054Leu
XM_017018204.1:c.2551G>T	XP_016873693.1:p.Val851Leu
XM_024448668.1:c.2962G>T	XP_024304436.1:p.Val988Leu
XR_001747945.2:n.4631G>T
XR_001747946.2:n.4562G>T
XR_002957189.1:n.6345G>T
NM_000352.6:c.4594G>T MANE Select	NP_000343.2:p.Val1532Leu
NM_001287174.2:c.4597G>T	NP_001274103.1:p.Val1533Leu
NM_001351295.2:c.4660G>T	NP_001338224.1:p.Val1554Leu
NM_001351296.2:c.4594G>T	NP_001338225.1:p.Val1532Leu
NM_001351297.2:c.4591G>T	NP_001338226.1:p.Val1531Leu
NR_147094.2:n.4889G>T
NM_001287174.3:c.4597G>T	NP_001274103.1:p.Val1533Leu