Canonical Allele Identifier: CA218407557

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1065615
• ClinVar RCV Id: RCV001376163 ; RCV001820080
• dbSNP Id: rs72559717
• gnomAD v3: 11-17395214-C-T
• gnomAD v4: 11-17395214-C-T
• MyVariant Identifiers: chr11:g.17416761C>T (hg19) ; chr11:g.17395214C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395214C>T , CM000673.2:g.17395214C>T	GRCh38
NC_000011.9:g.17416761C>T , CM000673.1:g.17416761C>T	GRCh37
NC_000011.8:g.17373337C>T	NCBI36
NG_008867.1:g.86689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3970G>A
ENST00000526037.6:n.304G>A
ENST00000528374.2:c.960G>A
ENST00000529967.6:n.2708G>A
ENST00000532220.2:n.3602G>A
ENST00000642611.2:n.5702G>A
ENST00000644057.2:n.945G>A
ENST00000645004.2:n.1868G>A
ENST00000682051.1:n.4531G>A
ENST00000682110.1:n.4584G>A
ENST00000682140.1:c.*155G>A	ENSP00000507829.1:n.*155G>A
ENST00000682185.1:n.5674G>A
ENST00000682204.1:c.*2507G>A	ENSP00000507094.1:n.*2507G>A
ENST00000682215.1:n.4951G>A
ENST00000682288.1:c.*2800G>A	ENSP00000507506.1:n.*2800G>A
ENST00000682442.1:n.4804G>A
ENST00000682528.1:n.4661G>A
ENST00000682673.1:n.4528G>A
ENST00000682805.1:n.4989G>A
ENST00000682965.1:c.*791G>A	ENSP00000508229.1:n.*791G>A
ENST00000683093.1:n.5606+396G>A
ENST00000683136.1:c.4252G>A	ENSP00000507768.1:p.Ala1418Thr
ENST00000683153.1:n.4626G>A
ENST00000683365.1:n.4686G>A
ENST00000683377.1:n.4522+396G>A
ENST00000683456.1:c.*1506G>A	ENSP00000508318.1:n.*1506G>A
ENST00000683522.1:n.4584G>A
ENST00000683562.1:c.*2476+396G>A	ENSP00000508265.1:n.*2476+396G>A
ENST00000683693.1:n.6087+396G>A
ENST00000683725.1:c.4307+396G>A	ENSP00000507496.1:n.4307+396G>A
ENST00000684010.1:n.4579G>A
ENST00000684157.1:n.5569G>A
ENST00000684253.1:n.4487G>A
ENST00000684288.1:c.*2541G>A	ENSP00000507143.1:n.*2541G>A
ENST00000684313.1:n.4016G>A
ENST00000684332.1:n.4657G>A
ENST00000684371.1:n.4690G>A
ENST00000684404.1:n.5612G>A
ENST00000684442.1:n.4808G>A
ENST00000684555.1:c.*2581G>A	ENSP00000507705.1:n.*2581G>A
ENST00000684571.1:c.4210G>A	ENSP00000506935.1:p.Ala1404Thr
ENST00000684593.1:c.*4074G>A	ENSP00000507005.1:n.*4074G>A
ENST00000684711.1:c.*2765G>A	ENSP00000506841.1:n.*2765G>A
ENST00000302539.9:c.4372G>A	ENSP00000303960.4:p.Ala1458Thr
ENST00000389817.8:c.4369G>A MANE Select	ENSP00000374467.4:p.Ala1457Thr
ENST00000642271.1:c.4366G>A	ENSP00000493749.1:p.Ala1456Thr
ENST00000642579.1:c.2423G>A
ENST00000642611.1:n.5587G>A
ENST00000642902.1:c.4151G>A
ENST00000643260.1:c.4369G>A	ENSP00000494450.1:p.Ala1457Thr
ENST00000643562.1:c.*2491G>A	ENSP00000496124.1:n.*2491G>A
ENST00000643925.1:c.3009G>A
ENST00000644057.1:n.446G>A
ENST00000644484.1:c.*3755G>A	ENSP00000493558.1:n.*3755G>A
ENST00000644675.1:c.*2541G>A	ENSP00000494567.1:n.*2541G>A
ENST00000644757.1:c.*3202+1050G>A	ENSP00000495085.1:n.*3202+1050G>A
ENST00000644772.1:c.4435G>A	ENSP00000494321.1:p.Ala1479Thr
ENST00000645004.1:n.2062G>A
ENST00000645076.1:c.3506+396G>A
ENST00000645417.1:c.1557G>A
ENST00000645744.1:c.*4054G>A	ENSP00000494564.1:n.*4054G>A
ENST00000645760.1:c.4790G>A
ENST00000645884.1:c.*1652G>A	ENSP00000495516.1:n.*1652G>A
ENST00000646003.1:c.*2391G>A	ENSP00000495259.1:n.*2391G>A
ENST00000646207.1:c.*3206G>A	ENSP00000495025.1:n.*3206G>A
ENST00000646276.1:c.*3773G>A	ENSP00000496070.1:n.*3773G>A
ENST00000646592.1:c.3675G>A
ENST00000646902.1:c.4336G>A	ENSP00000494101.1:p.Ala1446Thr
ENST00000646993.1:c.*2849+396G>A	ENSP00000493720.1:n.*2849+396G>A
ENST00000647013.1:c.4375G>A	ENSP00000496741.1:n.4375G>A
ENST00000647015.1:c.4120G>A	ENSP00000495389.1:p.Ala1374Thr
ENST00000647086.1:c.*3955G>A	ENSP00000493677.1:n.*3955G>A
ENST00000647158.1:c.*2656G>A	ENSP00000495744.1:n.*2656G>A
ENST00000302539.8:c.4372G>A	ENSP00000303960.4:p.Ala1458Thr
ENST00000389817.7:c.4369G>A	ENSP00000374467.3:p.Ala1457Thr
ENST00000525022.1:n.306+396G>A
ENST00000526037.5:n.171+396G>A
ENST00000526168.5:c.157G>A
ENST00000531642.5:c.400G>A
NM_000352.4:c.4369G>A	NP_000343.2:p.Ala1457Thr
NM_001287174.1:c.4372G>A	NP_001274103.1:p.Ala1458Thr
XM_011520331.1:c.4369G>A	XP_011518633.1:p.Ala1457Thr
XM_011520332.1:c.4310+396G>A	XP_011518634.1:n.4310+396G>A
XM_011520333.1:c.2869G>A	XP_011518635.1:p.Ala957Thr
XR_930890.1:n.4373+396G>A
NM_001351295.1:c.4435G>A	NP_001338224.1:p.Ala1479Thr
NM_001351296.1:c.4369G>A	NP_001338225.1:p.Ala1457Thr
NM_001351297.1:c.4366G>A	NP_001338226.1:p.Ala1456Thr
NR_147094.1:n.4664G>A
XM_017018197.2:c.4438G>A	XP_016873686.1:p.Ala1480Thr
XM_017018199.1:c.4435G>A	XP_016873688.1:p.Ala1479Thr
XM_017018201.2:c.4376+396G>A	XP_016873690.1:n.4376+396G>A
XM_017018202.1:c.2935G>A	XP_016873691.1:p.Ala979Thr
XM_017018204.1:c.2326G>A	XP_016873693.1:p.Ala776Thr
XM_024448668.1:c.2737G>A	XP_024304436.1:p.Ala913Thr
XR_001747945.2:n.4448+396G>A
XR_001747946.2:n.4379+396G>A
XR_002957189.1:n.6162+396G>A
NM_000352.6:c.4369G>A MANE Select	NP_000343.2:p.Ala1457Thr
NM_001287174.2:c.4372G>A	NP_001274103.1:p.Ala1458Thr
NM_001351295.2:c.4435G>A	NP_001338224.1:p.Ala1479Thr
NM_001351296.2:c.4369G>A	NP_001338225.1:p.Ala1457Thr
NM_001351297.2:c.4366G>A	NP_001338226.1:p.Ala1456Thr
NR_147094.2:n.4664G>A
NM_001287174.3:c.4372G>A	NP_001274103.1:p.Ala1458Thr