Canonical Allele Identifier: CA379780934

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17414590A>G (hg19) ; chr11:g.17393043A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393043A>G , CM000673.2:g.17393043A>G	GRCh38
NC_000011.9:g.17414590A>G , CM000673.1:g.17414590A>G	GRCh37
NC_000011.8:g.17371166A>G	NCBI36
NG_008867.1:g.88860T>C
NG_012446.1:g.617T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4295T>C
ENST00000526037.6:n.629T>C
ENST00000528374.2:c.1285T>C
ENST00000529967.6:n.3033T>C
ENST00000532220.2:n.3927T>C
ENST00000642611.2:n.6027T>C
ENST00000644057.2:n.1270T>C
ENST00000645004.2:n.2193T>C
ENST00000682051.1:n.4856T>C
ENST00000682110.1:n.4909T>C
ENST00000682140.1:c.*480T>C	ENSP00000507829.1:n.*480T>C
ENST00000682185.1:n.5999T>C
ENST00000682204.1:c.*2832T>C	ENSP00000507094.1:n.*2832T>C
ENST00000682215.1:n.5276T>C
ENST00000682288.1:c.*3125T>C	ENSP00000507506.1:n.*3125T>C
ENST00000682442.1:n.5129T>C
ENST00000682528.1:n.4986T>C
ENST00000682673.1:n.4853T>C
ENST00000682805.1:n.5314T>C
ENST00000682965.1:c.*1116T>C	ENSP00000508229.1:n.*1116T>C
ENST00000683093.1:n.5889T>C
ENST00000683136.1:c.4577T>C	ENSP00000507768.1:p.Leu1526Pro
ENST00000683153.1:n.4951T>C
ENST00000683365.1:n.5011T>C
ENST00000683377.1:n.4805T>C
ENST00000683456.1:c.*1831T>C	ENSP00000508318.1:n.*1831T>C
ENST00000683522.1:n.4991T>C
ENST00000683562.1:c.*2759T>C	ENSP00000508265.1:n.*2759T>C
ENST00000683693.1:n.6370T>C
ENST00000683725.1:c.*159T>C	ENSP00000507496.1:n.*159T>C
ENST00000684010.1:n.4904T>C
ENST00000684014.1:n.881T>C
ENST00000684157.1:n.5894T>C
ENST00000684253.1:n.4812T>C
ENST00000684288.1:c.*2866T>C	ENSP00000507143.1:n.*2866T>C
ENST00000684313.1:n.4341T>C
ENST00000684332.1:n.4982T>C
ENST00000684371.1:n.5015T>C
ENST00000684404.1:n.5937T>C
ENST00000684442.1:n.5133T>C
ENST00000684555.1:c.*2906T>C	ENSP00000507705.1:n.*2906T>C
ENST00000684571.1:c.4535T>C	ENSP00000506935.1:p.Leu1512Pro
ENST00000684593.1:c.*4399T>C	ENSP00000507005.1:n.*4399T>C
ENST00000684711.1:c.*3090T>C	ENSP00000506841.1:n.*3090T>C
ENST00000302539.9:c.4697T>C	ENSP00000303960.4:p.Leu1566Pro
ENST00000389817.8:c.4694T>C MANE Select	ENSP00000374467.4:p.Leu1565Pro
ENST00000642271.1:c.4691T>C	ENSP00000493749.1:p.Leu1564Pro
ENST00000642579.1:c.2748T>C
ENST00000642611.1:n.5912T>C
ENST00000642902.1:c.4476T>C
ENST00000643260.1:c.4694T>C	ENSP00000494450.1:p.Leu1565Pro
ENST00000643562.1:c.*2816T>C	ENSP00000496124.1:n.*2816T>C
ENST00000643925.1:c.3271T>C
ENST00000644057.1:n.853T>C
ENST00000644484.1:c.*4080T>C	ENSP00000493558.1:n.*4080T>C
ENST00000644675.1:c.*2866T>C	ENSP00000494567.1:n.*2866T>C
ENST00000644757.1:c.*3203-63T>C	ENSP00000495085.1:n.*3203-63T>C
ENST00000644772.1:c.4760T>C	ENSP00000494321.1:p.Leu1587Pro
ENST00000645004.1:n.2387T>C
ENST00000645076.1:c.3789T>C
ENST00000645760.1:c.5115T>C
ENST00000645884.1:c.*1977T>C	ENSP00000495516.1:n.*1977T>C
ENST00000646003.1:c.*2716T>C	ENSP00000495259.1:n.*2716T>C
ENST00000646207.1:c.*3531T>C	ENSP00000495025.1:n.*3531T>C
ENST00000646592.1:c.4000T>C
ENST00000646902.1:c.4661T>C	ENSP00000494101.1:p.Leu1554Pro
ENST00000646993.1:c.*3132T>C	ENSP00000493720.1:n.*3132T>C
ENST00000647015.1:c.4445T>C	ENSP00000495389.1:p.Leu1482Pro
ENST00000647086.1:c.*4280T>C	ENSP00000493677.1:n.*4280T>C
ENST00000302539.8:c.4697T>C	ENSP00000303960.4:p.Leu1566Pro
ENST00000389817.7:c.4694T>C	ENSP00000374467.3:p.Leu1565Pro
ENST00000525022.1:n.673T>C
ENST00000526037.5:n.454T>C
ENST00000526168.5:c.482T>C
ENST00000531642.5:c.725T>C
NM_000352.4:c.4694T>C	NP_000343.2:p.Leu1565Pro
NM_001287174.1:c.4697T>C	NP_001274103.1:p.Leu1566Pro
XM_011520331.1:c.4694T>C	XP_011518633.1:p.Leu1565Pro
XM_011520333.1:c.3194T>C	XP_011518635.1:p.Leu1065Pro
XR_930890.1:n.4656T>C
NM_001351295.1:c.4760T>C	NP_001338224.1:p.Leu1587Pro
NM_001351296.1:c.4694T>C	NP_001338225.1:p.Leu1565Pro
NM_001351297.1:c.4691T>C	NP_001338226.1:p.Leu1564Pro
NR_147094.1:n.4989T>C
XM_017018197.2:c.4763T>C	XP_016873686.1:p.Leu1588Pro
XM_017018199.1:c.4760T>C	XP_016873688.1:p.Leu1587Pro
XM_017018202.1:c.3260T>C	XP_016873691.1:p.Leu1087Pro
XM_017018204.1:c.2651T>C	XP_016873693.1:p.Leu884Pro
XM_024448668.1:c.3062T>C	XP_024304436.1:p.Leu1021Pro
XR_001747945.2:n.4731T>C
XR_001747946.2:n.4662T>C
XR_002957189.1:n.6445T>C
NM_000352.6:c.4694T>C MANE Select	NP_000343.2:p.Leu1565Pro
NM_001287174.2:c.4697T>C	NP_001274103.1:p.Leu1566Pro
NM_001351295.2:c.4760T>C	NP_001338224.1:p.Leu1587Pro
NM_001351296.2:c.4694T>C	NP_001338225.1:p.Leu1565Pro
NM_001351297.2:c.4691T>C	NP_001338226.1:p.Leu1564Pro
NR_147094.2:n.4989T>C
NM_001287174.3:c.4697T>C	NP_001274103.1:p.Leu1566Pro