Canonical Allele Identifier: CA379781493

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17393118-T-G
• COSMIC: COSM4897023
• MyVariant Identifiers: chr11:g.17414665T>G (hg19) ; chr11:g.17393118T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393118T>G , CM000673.2:g.17393118T>G	GRCh38
NC_000011.9:g.17414665T>G , CM000673.1:g.17414665T>G	GRCh37
NC_000011.8:g.17371241T>G	NCBI36
NG_008867.1:g.88785A>C
NG_012446.1:g.542A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4220A>C
ENST00000526037.6:n.554A>C
ENST00000528374.2:c.1210A>C
ENST00000529967.6:n.2958A>C
ENST00000532220.2:n.3852A>C
ENST00000642611.2:n.5952A>C
ENST00000644057.2:n.1195A>C
ENST00000645004.2:n.2118A>C
ENST00000682051.1:n.4781A>C
ENST00000682110.1:n.4834A>C
ENST00000682140.1:c.*405A>C	ENSP00000507829.1:n.*405A>C
ENST00000682185.1:n.5924A>C
ENST00000682204.1:c.*2757A>C	ENSP00000507094.1:n.*2757A>C
ENST00000682215.1:n.5201A>C
ENST00000682288.1:c.*3050A>C	ENSP00000507506.1:n.*3050A>C
ENST00000682442.1:n.5054A>C
ENST00000682528.1:n.4911A>C
ENST00000682673.1:n.4778A>C
ENST00000682805.1:n.5239A>C
ENST00000682965.1:c.*1041A>C	ENSP00000508229.1:n.*1041A>C
ENST00000683093.1:n.5814A>C
ENST00000683136.1:c.4502A>C	ENSP00000507768.1:p.His1501Pro
ENST00000683153.1:n.4876A>C
ENST00000683365.1:n.4936A>C
ENST00000683377.1:n.4730A>C
ENST00000683456.1:c.*1756A>C	ENSP00000508318.1:n.*1756A>C
ENST00000683522.1:n.4916A>C
ENST00000683562.1:c.*2684A>C	ENSP00000508265.1:n.*2684A>C
ENST00000683693.1:n.6295A>C
ENST00000683725.1:c.*84A>C	ENSP00000507496.1:n.*84A>C
ENST00000684010.1:n.4829A>C
ENST00000684014.1:n.806A>C
ENST00000684157.1:n.5819A>C
ENST00000684253.1:n.4737A>C
ENST00000684288.1:c.*2791A>C	ENSP00000507143.1:n.*2791A>C
ENST00000684313.1:n.4266A>C
ENST00000684332.1:n.4907A>C
ENST00000684371.1:n.4940A>C
ENST00000684404.1:n.5862A>C
ENST00000684442.1:n.5058A>C
ENST00000684555.1:c.*2831A>C	ENSP00000507705.1:n.*2831A>C
ENST00000684571.1:c.4460A>C	ENSP00000506935.1:p.His1487Pro
ENST00000684593.1:c.*4324A>C	ENSP00000507005.1:n.*4324A>C
ENST00000684711.1:c.*3015A>C	ENSP00000506841.1:n.*3015A>C
ENST00000302539.9:c.4622A>C	ENSP00000303960.4:p.His1541Pro
ENST00000389817.8:c.4619A>C MANE Select	ENSP00000374467.4:p.His1540Pro
ENST00000642271.1:c.4616A>C	ENSP00000493749.1:p.His1539Pro
ENST00000642579.1:c.2673A>C
ENST00000642611.1:n.5837A>C
ENST00000642902.1:c.4401A>C
ENST00000643260.1:c.4619A>C	ENSP00000494450.1:p.His1540Pro
ENST00000643562.1:c.*2741A>C	ENSP00000496124.1:n.*2741A>C
ENST00000643925.1:c.3196A>C
ENST00000644057.1:n.778A>C
ENST00000644484.1:c.*4005A>C	ENSP00000493558.1:n.*4005A>C
ENST00000644675.1:c.*2791A>C	ENSP00000494567.1:n.*2791A>C
ENST00000644757.1:c.*3203-138A>C	ENSP00000495085.1:n.*3203-138A>C
ENST00000644772.1:c.4685A>C	ENSP00000494321.1:p.His1562Pro
ENST00000645004.1:n.2312A>C
ENST00000645076.1:c.3714A>C
ENST00000645417.1:c.1807A>C
ENST00000645744.1:c.*4304A>C	ENSP00000494564.1:n.*4304A>C
ENST00000645760.1:c.5040A>C
ENST00000645884.1:c.*1902A>C	ENSP00000495516.1:n.*1902A>C
ENST00000646003.1:c.*2641A>C	ENSP00000495259.1:n.*2641A>C
ENST00000646207.1:c.*3456A>C	ENSP00000495025.1:n.*3456A>C
ENST00000646276.1:c.*4023A>C	ENSP00000496070.1:n.*4023A>C
ENST00000646592.1:c.3925A>C
ENST00000646902.1:c.4586A>C	ENSP00000494101.1:p.His1529Pro
ENST00000646993.1:c.*3057A>C	ENSP00000493720.1:n.*3057A>C
ENST00000647015.1:c.4370A>C	ENSP00000495389.1:p.His1457Pro
ENST00000647086.1:c.*4205A>C	ENSP00000493677.1:n.*4205A>C
ENST00000647158.1:c.*2906A>C	ENSP00000495744.1:n.*2906A>C
ENST00000302539.8:c.4622A>C	ENSP00000303960.4:p.His1541Pro
ENST00000389817.7:c.4619A>C	ENSP00000374467.3:p.His1540Pro
ENST00000525022.1:n.598A>C
ENST00000526037.5:n.379A>C
ENST00000526168.5:c.407A>C
ENST00000531642.5:c.650A>C
NM_000352.4:c.4619A>C	NP_000343.2:p.His1540Pro
NM_001287174.1:c.4622A>C	NP_001274103.1:p.His1541Pro
XM_011520331.1:c.4619A>C	XP_011518633.1:p.His1540Pro
XM_011520333.1:c.3119A>C	XP_011518635.1:p.His1040Pro
XR_930890.1:n.4581A>C
NM_001351295.1:c.4685A>C	NP_001338224.1:p.His1562Pro
NM_001351296.1:c.4619A>C	NP_001338225.1:p.His1540Pro
NM_001351297.1:c.4616A>C	NP_001338226.1:p.His1539Pro
NR_147094.1:n.4914A>C
XM_017018197.2:c.4688A>C	XP_016873686.1:p.His1563Pro
XM_017018199.1:c.4685A>C	XP_016873688.1:p.His1562Pro
XM_017018202.1:c.3185A>C	XP_016873691.1:p.His1062Pro
XM_017018204.1:c.2576A>C	XP_016873693.1:p.His859Pro
XM_024448668.1:c.2987A>C	XP_024304436.1:p.His996Pro
XR_001747945.2:n.4656A>C
XR_001747946.2:n.4587A>C
XR_002957189.1:n.6370A>C
NM_000352.6:c.4619A>C MANE Select	NP_000343.2:p.His1540Pro
NM_001287174.2:c.4622A>C	NP_001274103.1:p.His1541Pro
NM_001351295.2:c.4685A>C	NP_001338224.1:p.His1562Pro
NM_001351296.2:c.4619A>C	NP_001338225.1:p.His1540Pro
NM_001351297.2:c.4616A>C	NP_001338226.1:p.His1539Pro
NR_147094.2:n.4914A>C
NM_001287174.3:c.4622A>C	NP_001274103.1:p.His1541Pro