Canonical Allele Identifier: CA379782110

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415287A>G (hg19) ; chr11:g.17393740A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393740A>G , CM000673.2:g.17393740A>G	GRCh38
NC_000011.9:g.17415287A>G , CM000673.1:g.17415287A>G	GRCh37
NC_000011.8:g.17371863A>G	NCBI36
NG_008867.1:g.88163T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4166T>C
ENST00000526037.6:n.500T>C
ENST00000528374.2:c.1156T>C
ENST00000529967.6:n.2904T>C
ENST00000532220.2:n.3798T>C
ENST00000642611.2:n.5898T>C
ENST00000644057.2:n.1141T>C
ENST00000645004.2:n.2064T>C
ENST00000682051.1:n.4727T>C
ENST00000682110.1:n.4780T>C
ENST00000682140.1:c.*351T>C	ENSP00000507829.1:n.*351T>C
ENST00000682185.1:n.5870T>C
ENST00000682204.1:c.*2703T>C	ENSP00000507094.1:n.*2703T>C
ENST00000682215.1:n.5147T>C
ENST00000682288.1:c.*2996T>C	ENSP00000507506.1:n.*2996T>C
ENST00000682442.1:n.5000T>C
ENST00000682528.1:n.4857T>C
ENST00000682673.1:n.4724T>C
ENST00000682805.1:n.5185T>C
ENST00000682965.1:c.*987T>C	ENSP00000508229.1:n.*987T>C
ENST00000683093.1:n.5760T>C
ENST00000683136.1:c.4448T>C	ENSP00000507768.1:p.Val1483Ala
ENST00000683153.1:n.4822T>C
ENST00000683365.1:n.4882T>C
ENST00000683377.1:n.4676T>C
ENST00000683456.1:c.*1702T>C	ENSP00000508318.1:n.*1702T>C
ENST00000683522.1:n.4862T>C
ENST00000683562.1:c.*2630T>C	ENSP00000508265.1:n.*2630T>C
ENST00000683693.1:n.6241T>C
ENST00000683725.1:c.*30T>C	ENSP00000507496.1:n.*30T>C
ENST00000684010.1:n.4775T>C
ENST00000684014.1:n.752T>C
ENST00000684157.1:n.5765T>C
ENST00000684253.1:n.4683T>C
ENST00000684288.1:c.*2737T>C	ENSP00000507143.1:n.*2737T>C
ENST00000684313.1:n.4212T>C
ENST00000684332.1:n.4853T>C
ENST00000684371.1:n.4886T>C
ENST00000684404.1:n.5808T>C
ENST00000684442.1:n.5004T>C
ENST00000684555.1:c.*2777T>C	ENSP00000507705.1:n.*2777T>C
ENST00000684571.1:c.4406T>C	ENSP00000506935.1:p.Val1469Ala
ENST00000684593.1:c.*4270T>C	ENSP00000507005.1:n.*4270T>C
ENST00000684711.1:c.*2961T>C	ENSP00000506841.1:n.*2961T>C
ENST00000302539.9:c.4568T>C	ENSP00000303960.4:p.Val1523Ala
ENST00000389817.8:c.4565T>C MANE Select	ENSP00000374467.4:p.Val1522Ala
ENST00000642271.1:c.4562T>C	ENSP00000493749.1:p.Val1521Ala
ENST00000642579.1:c.2619T>C
ENST00000642611.1:n.5783T>C
ENST00000642902.1:c.4347T>C
ENST00000643260.1:c.4565T>C	ENSP00000494450.1:p.Val1522Ala
ENST00000643562.1:c.*2687T>C	ENSP00000496124.1:n.*2687T>C
ENST00000643925.1:c.3185+526T>C
ENST00000644057.1:n.724T>C
ENST00000644484.1:c.*3951T>C	ENSP00000493558.1:n.*3951T>C
ENST00000644675.1:c.*2737T>C	ENSP00000494567.1:n.*2737T>C
ENST00000644757.1:c.*3203-760T>C	ENSP00000495085.1:n.*3203-760T>C
ENST00000644772.1:c.4631T>C	ENSP00000494321.1:p.Val1544Ala
ENST00000645004.1:n.2258T>C
ENST00000645076.1:c.3660T>C
ENST00000645417.1:c.1753T>C
ENST00000645744.1:c.*4250T>C	ENSP00000494564.1:n.*4250T>C
ENST00000645760.1:c.4986T>C
ENST00000645884.1:c.*1848T>C	ENSP00000495516.1:n.*1848T>C
ENST00000646003.1:c.*2587T>C	ENSP00000495259.1:n.*2587T>C
ENST00000646207.1:c.*3402T>C	ENSP00000495025.1:n.*3402T>C
ENST00000646276.1:c.*3969T>C	ENSP00000496070.1:n.*3969T>C
ENST00000646592.1:c.3871T>C
ENST00000646902.1:c.4532T>C	ENSP00000494101.1:p.Val1511Ala
ENST00000646993.1:c.*3003T>C	ENSP00000493720.1:n.*3003T>C
ENST00000647015.1:c.4316T>C	ENSP00000495389.1:p.Val1439Ala
ENST00000647086.1:c.*4151T>C	ENSP00000493677.1:n.*4151T>C
ENST00000647158.1:c.*2852T>C	ENSP00000495744.1:n.*2852T>C
ENST00000302539.8:c.4568T>C	ENSP00000303960.4:p.Val1523Ala
ENST00000389817.7:c.4565T>C	ENSP00000374467.3:p.Val1522Ala
ENST00000525022.1:n.460T>C
ENST00000526037.5:n.325T>C
ENST00000526168.5:c.353T>C
ENST00000531642.5:c.596T>C
NM_000352.4:c.4565T>C	NP_000343.2:p.Val1522Ala
NM_001287174.1:c.4568T>C	NP_001274103.1:p.Val1523Ala
XM_011520331.1:c.4565T>C	XP_011518633.1:p.Val1522Ala
XM_011520333.1:c.3065T>C	XP_011518635.1:p.Val1022Ala
XR_930890.1:n.4527T>C
NM_001351295.1:c.4631T>C	NP_001338224.1:p.Val1544Ala
NM_001351296.1:c.4565T>C	NP_001338225.1:p.Val1522Ala
NM_001351297.1:c.4562T>C	NP_001338226.1:p.Val1521Ala
NR_147094.1:n.4860T>C
XM_017018197.2:c.4634T>C	XP_016873686.1:p.Val1545Ala
XM_017018199.1:c.4631T>C	XP_016873688.1:p.Val1544Ala
XM_017018202.1:c.3131T>C	XP_016873691.1:p.Val1044Ala
XM_017018204.1:c.2522T>C	XP_016873693.1:p.Val841Ala
XM_024448668.1:c.2933T>C	XP_024304436.1:p.Val978Ala
XR_001747945.2:n.4602T>C
XR_001747946.2:n.4533T>C
XR_002957189.1:n.6316T>C
NM_000352.6:c.4565T>C MANE Select	NP_000343.2:p.Val1522Ala
NM_001287174.2:c.4568T>C	NP_001274103.1:p.Val1523Ala
NM_001351295.2:c.4631T>C	NP_001338224.1:p.Val1544Ala
NM_001351296.2:c.4565T>C	NP_001338225.1:p.Val1522Ala
NM_001351297.2:c.4562T>C	NP_001338226.1:p.Val1521Ala
NR_147094.2:n.4860T>C
NM_001287174.3:c.4568T>C	NP_001274103.1:p.Val1523Ala