Canonical Allele Identifier: CA379781987

Gene: ABCC8

Linked Data

• dbSNP Id: rs1415026147
• gnomAD v2: 11-17415270-C-T
• gnomAD v3: 11-17393723-C-T
• gnomAD v4: 11-17393723-C-T
• MyVariant Identifiers: chr11:g.17415270C>T (hg19) ; chr11:g.17393723C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393723C>T , CM000673.2:g.17393723C>T	GRCh38
NC_000011.9:g.17415270C>T , CM000673.1:g.17415270C>T	GRCh37
NC_000011.8:g.17371846C>T	NCBI36
NG_008867.1:g.88180G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4183G>A
ENST00000526037.6:n.517G>A
ENST00000528374.2:c.1173G>A
ENST00000529967.6:n.2921G>A
ENST00000532220.2:n.3815G>A
ENST00000642611.2:n.5915G>A
ENST00000644057.2:n.1158G>A
ENST00000645004.2:n.2081G>A
ENST00000682051.1:n.4744G>A
ENST00000682110.1:n.4797G>A
ENST00000682140.1:c.*368G>A	ENSP00000507829.1:n.*368G>A
ENST00000682185.1:n.5887G>A
ENST00000682204.1:c.*2720G>A	ENSP00000507094.1:n.*2720G>A
ENST00000682215.1:n.5164G>A
ENST00000682288.1:c.*3013G>A	ENSP00000507506.1:n.*3013G>A
ENST00000682442.1:n.5017G>A
ENST00000682528.1:n.4874G>A
ENST00000682673.1:n.4741G>A
ENST00000682805.1:n.5202G>A
ENST00000682965.1:c.*1004G>A	ENSP00000508229.1:n.*1004G>A
ENST00000683093.1:n.5777G>A
ENST00000683136.1:c.4465G>A	ENSP00000507768.1:p.Ala1489Thr
ENST00000683153.1:n.4839G>A
ENST00000683365.1:n.4899G>A
ENST00000683377.1:n.4693G>A
ENST00000683456.1:c.*1719G>A	ENSP00000508318.1:n.*1719G>A
ENST00000683522.1:n.4879G>A
ENST00000683562.1:c.*2647G>A	ENSP00000508265.1:n.*2647G>A
ENST00000683693.1:n.6258G>A
ENST00000683725.1:c.*47G>A	ENSP00000507496.1:n.*47G>A
ENST00000684010.1:n.4792G>A
ENST00000684014.1:n.769G>A
ENST00000684157.1:n.5782G>A
ENST00000684253.1:n.4700G>A
ENST00000684288.1:c.*2754G>A	ENSP00000507143.1:n.*2754G>A
ENST00000684313.1:n.4229G>A
ENST00000684332.1:n.4870G>A
ENST00000684371.1:n.4903G>A
ENST00000684404.1:n.5825G>A
ENST00000684442.1:n.5021G>A
ENST00000684555.1:c.*2794G>A	ENSP00000507705.1:n.*2794G>A
ENST00000684571.1:c.4423G>A	ENSP00000506935.1:p.Ala1475Thr
ENST00000684593.1:c.*4287G>A	ENSP00000507005.1:n.*4287G>A
ENST00000684711.1:c.*2978G>A	ENSP00000506841.1:n.*2978G>A
ENST00000302539.9:c.4585G>A	ENSP00000303960.4:p.Ala1529Thr
ENST00000389817.8:c.4582G>A MANE Select	ENSP00000374467.4:p.Ala1528Thr
ENST00000642271.1:c.4579G>A	ENSP00000493749.1:p.Ala1527Thr
ENST00000642579.1:c.2636G>A
ENST00000642611.1:n.5800G>A
ENST00000642902.1:c.4364G>A
ENST00000643260.1:c.4582G>A	ENSP00000494450.1:p.Ala1528Thr
ENST00000643562.1:c.*2704G>A	ENSP00000496124.1:n.*2704G>A
ENST00000643925.1:c.3185+543G>A
ENST00000644057.1:n.741G>A
ENST00000644484.1:c.*3968G>A	ENSP00000493558.1:n.*3968G>A
ENST00000644675.1:c.*2754G>A	ENSP00000494567.1:n.*2754G>A
ENST00000644757.1:c.*3203-743G>A	ENSP00000495085.1:n.*3203-743G>A
ENST00000644772.1:c.4648G>A	ENSP00000494321.1:p.Ala1550Thr
ENST00000645004.1:n.2275G>A
ENST00000645076.1:c.3677G>A
ENST00000645417.1:c.1770G>A
ENST00000645744.1:c.*4267G>A	ENSP00000494564.1:n.*4267G>A
ENST00000645760.1:c.5003G>A
ENST00000645884.1:c.*1865G>A	ENSP00000495516.1:n.*1865G>A
ENST00000646003.1:c.*2604G>A	ENSP00000495259.1:n.*2604G>A
ENST00000646207.1:c.*3419G>A	ENSP00000495025.1:n.*3419G>A
ENST00000646276.1:c.*3986G>A	ENSP00000496070.1:n.*3986G>A
ENST00000646592.1:c.3888G>A
ENST00000646902.1:c.4549G>A	ENSP00000494101.1:p.Ala1517Thr
ENST00000646993.1:c.*3020G>A	ENSP00000493720.1:n.*3020G>A
ENST00000647015.1:c.4333G>A	ENSP00000495389.1:p.Ala1445Thr
ENST00000647086.1:c.*4168G>A	ENSP00000493677.1:n.*4168G>A
ENST00000647158.1:c.*2869G>A	ENSP00000495744.1:n.*2869G>A
ENST00000302539.8:c.4585G>A	ENSP00000303960.4:p.Ala1529Thr
ENST00000389817.7:c.4582G>A	ENSP00000374467.3:p.Ala1528Thr
ENST00000525022.1:n.477G>A
ENST00000526037.5:n.342G>A
ENST00000526168.5:c.370G>A
ENST00000531642.5:c.613G>A
NM_000352.4:c.4582G>A	NP_000343.2:p.Ala1528Thr
NM_001287174.1:c.4585G>A	NP_001274103.1:p.Ala1529Thr
XM_011520331.1:c.4582G>A	XP_011518633.1:p.Ala1528Thr
XM_011520333.1:c.3082G>A	XP_011518635.1:p.Ala1028Thr
XR_930890.1:n.4544G>A
NM_001351295.1:c.4648G>A	NP_001338224.1:p.Ala1550Thr
NM_001351296.1:c.4582G>A	NP_001338225.1:p.Ala1528Thr
NM_001351297.1:c.4579G>A	NP_001338226.1:p.Ala1527Thr
NR_147094.1:n.4877G>A
XM_017018197.2:c.4651G>A	XP_016873686.1:p.Ala1551Thr
XM_017018199.1:c.4648G>A	XP_016873688.1:p.Ala1550Thr
XM_017018202.1:c.3148G>A	XP_016873691.1:p.Ala1050Thr
XM_017018204.1:c.2539G>A	XP_016873693.1:p.Ala847Thr
XM_024448668.1:c.2950G>A	XP_024304436.1:p.Ala984Thr
XR_001747945.2:n.4619G>A
XR_001747946.2:n.4550G>A
XR_002957189.1:n.6333G>A
NM_000352.6:c.4582G>A MANE Select	NP_000343.2:p.Ala1528Thr
NM_001287174.2:c.4585G>A	NP_001274103.1:p.Ala1529Thr
NM_001351295.2:c.4648G>A	NP_001338224.1:p.Ala1550Thr
NM_001351296.2:c.4582G>A	NP_001338225.1:p.Ala1528Thr
NM_001351297.2:c.4579G>A	NP_001338226.1:p.Ala1527Thr
NR_147094.2:n.4877G>A
NM_001287174.3:c.4585G>A	NP_001274103.1:p.Ala1529Thr