Canonical Allele Identifier: CA218406297

Gene: ABCC8

Linked Data

• dbSNP Id: rs1053035713
• gnomAD v4: 11-17393710-A-G
• MyVariant Identifiers: chr11:g.17415257A>G (hg19) ; chr11:g.17393710A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393710A>G , CM000673.2:g.17393710A>G	GRCh38
NC_000011.9:g.17415257A>G , CM000673.1:g.17415257A>G	GRCh37
NC_000011.8:g.17371833A>G	NCBI36
NG_008867.1:g.88193T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4196T>C
ENST00000526037.6:n.530T>C
ENST00000528374.2:c.1186T>C
ENST00000529967.6:n.2934T>C
ENST00000532220.2:n.3828T>C
ENST00000642611.2:n.5928T>C
ENST00000644057.2:n.1171T>C
ENST00000645004.2:n.2094T>C
ENST00000682051.1:n.4757T>C
ENST00000682110.1:n.4810T>C
ENST00000682140.1:c.*381T>C	ENSP00000507829.1:n.*381T>C
ENST00000682185.1:n.5900T>C
ENST00000682204.1:c.*2733T>C	ENSP00000507094.1:n.*2733T>C
ENST00000682215.1:n.5177T>C
ENST00000682288.1:c.*3026T>C	ENSP00000507506.1:n.*3026T>C
ENST00000682442.1:n.5030T>C
ENST00000682528.1:n.4887T>C
ENST00000682673.1:n.4754T>C
ENST00000682805.1:n.5215T>C
ENST00000682965.1:c.*1017T>C	ENSP00000508229.1:n.*1017T>C
ENST00000683093.1:n.5790T>C
ENST00000683136.1:c.4478T>C	ENSP00000507768.1:p.Val1493Ala
ENST00000683153.1:n.4852T>C
ENST00000683365.1:n.4912T>C
ENST00000683377.1:n.4706T>C
ENST00000683456.1:c.*1732T>C	ENSP00000508318.1:n.*1732T>C
ENST00000683522.1:n.4892T>C
ENST00000683562.1:c.*2660T>C	ENSP00000508265.1:n.*2660T>C
ENST00000683693.1:n.6271T>C
ENST00000683725.1:c.*60T>C	ENSP00000507496.1:n.*60T>C
ENST00000684010.1:n.4805T>C
ENST00000684014.1:n.782T>C
ENST00000684157.1:n.5795T>C
ENST00000684253.1:n.4713T>C
ENST00000684288.1:c.*2767T>C	ENSP00000507143.1:n.*2767T>C
ENST00000684313.1:n.4242T>C
ENST00000684332.1:n.4883T>C
ENST00000684371.1:n.4916T>C
ENST00000684404.1:n.5838T>C
ENST00000684442.1:n.5034T>C
ENST00000684555.1:c.*2807T>C	ENSP00000507705.1:n.*2807T>C
ENST00000684571.1:c.4436T>C	ENSP00000506935.1:p.Val1479Ala
ENST00000684593.1:c.*4300T>C	ENSP00000507005.1:n.*4300T>C
ENST00000684711.1:c.*2991T>C	ENSP00000506841.1:n.*2991T>C
ENST00000302539.9:c.4598T>C	ENSP00000303960.4:p.Val1533Ala
ENST00000389817.8:c.4595T>C MANE Select	ENSP00000374467.4:p.Val1532Ala
ENST00000642271.1:c.4592T>C	ENSP00000493749.1:p.Val1531Ala
ENST00000642579.1:c.2649T>C
ENST00000642611.1:n.5813T>C
ENST00000642902.1:c.4377T>C
ENST00000643260.1:c.4595T>C	ENSP00000494450.1:p.Val1532Ala
ENST00000643562.1:c.*2717T>C	ENSP00000496124.1:n.*2717T>C
ENST00000643925.1:c.3185+556T>C
ENST00000644057.1:n.754T>C
ENST00000644484.1:c.*3981T>C	ENSP00000493558.1:n.*3981T>C
ENST00000644675.1:c.*2767T>C	ENSP00000494567.1:n.*2767T>C
ENST00000644757.1:c.*3203-730T>C	ENSP00000495085.1:n.*3203-730T>C
ENST00000644772.1:c.4661T>C	ENSP00000494321.1:p.Val1554Ala
ENST00000645004.1:n.2288T>C
ENST00000645076.1:c.3690T>C
ENST00000645417.1:c.1783T>C
ENST00000645744.1:c.*4280T>C	ENSP00000494564.1:n.*4280T>C
ENST00000645760.1:c.5016T>C
ENST00000645884.1:c.*1878T>C	ENSP00000495516.1:n.*1878T>C
ENST00000646003.1:c.*2617T>C	ENSP00000495259.1:n.*2617T>C
ENST00000646207.1:c.*3432T>C	ENSP00000495025.1:n.*3432T>C
ENST00000646276.1:c.*3999T>C	ENSP00000496070.1:n.*3999T>C
ENST00000646592.1:c.3901T>C
ENST00000646902.1:c.4562T>C	ENSP00000494101.1:p.Val1521Ala
ENST00000646993.1:c.*3033T>C	ENSP00000493720.1:n.*3033T>C
ENST00000647015.1:c.4346T>C	ENSP00000495389.1:p.Val1449Ala
ENST00000647086.1:c.*4181T>C	ENSP00000493677.1:n.*4181T>C
ENST00000647158.1:c.*2882T>C	ENSP00000495744.1:n.*2882T>C
ENST00000302539.8:c.4598T>C	ENSP00000303960.4:p.Val1533Ala
ENST00000389817.7:c.4595T>C	ENSP00000374467.3:p.Val1532Ala
ENST00000525022.1:n.490T>C
ENST00000526037.5:n.355T>C
ENST00000526168.5:c.383T>C
ENST00000531642.5:c.626T>C
NM_000352.4:c.4595T>C	NP_000343.2:p.Val1532Ala
NM_001287174.1:c.4598T>C	NP_001274103.1:p.Val1533Ala
XM_011520331.1:c.4595T>C	XP_011518633.1:p.Val1532Ala
XM_011520333.1:c.3095T>C	XP_011518635.1:p.Val1032Ala
XR_930890.1:n.4557T>C
NM_001351295.1:c.4661T>C	NP_001338224.1:p.Val1554Ala
NM_001351296.1:c.4595T>C	NP_001338225.1:p.Val1532Ala
NM_001351297.1:c.4592T>C	NP_001338226.1:p.Val1531Ala
NR_147094.1:n.4890T>C
XM_017018197.2:c.4664T>C	XP_016873686.1:p.Val1555Ala
XM_017018199.1:c.4661T>C	XP_016873688.1:p.Val1554Ala
XM_017018202.1:c.3161T>C	XP_016873691.1:p.Val1054Ala
XM_017018204.1:c.2552T>C	XP_016873693.1:p.Val851Ala
XM_024448668.1:c.2963T>C	XP_024304436.1:p.Val988Ala
XR_001747945.2:n.4632T>C
XR_001747946.2:n.4563T>C
XR_002957189.1:n.6346T>C
NM_000352.6:c.4595T>C MANE Select	NP_000343.2:p.Val1532Ala
NM_001287174.2:c.4598T>C	NP_001274103.1:p.Val1533Ala
NM_001351295.2:c.4661T>C	NP_001338224.1:p.Val1554Ala
NM_001351296.2:c.4595T>C	NP_001338225.1:p.Val1532Ala
NM_001351297.2:c.4592T>C	NP_001338226.1:p.Val1531Ala
NR_147094.2:n.4890T>C
NM_001287174.3:c.4598T>C	NP_001274103.1:p.Val1533Ala