Canonical Allele Identifier: CA379786597

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417197T>A (hg19) ; chr11:g.17395650T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395650T>A , CM000673.2:g.17395650T>A	GRCh38
NC_000011.9:g.17417197T>A , CM000673.1:g.17417197T>A	GRCh37
NC_000011.8:g.17373773T>A	NCBI36
NG_008867.1:g.86253A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3868A>T
ENST00000528374.2:c.858A>T
ENST00000529967.6:n.2606A>T
ENST00000532220.2:n.3500A>T
ENST00000642611.2:n.5600A>T
ENST00000644057.2:n.843A>T
ENST00000645004.2:n.1766A>T
ENST00000682051.1:n.4429A>T
ENST00000682110.1:n.4482A>T
ENST00000682140.1:c.*53A>T	ENSP00000507829.1:n.*53A>T
ENST00000682185.1:n.5572A>T
ENST00000682204.1:c.*2405A>T	ENSP00000507094.1:n.*2405A>T
ENST00000682215.1:n.4849A>T
ENST00000682288.1:c.*2698A>T	ENSP00000507506.1:n.*2698A>T
ENST00000682442.1:n.4702A>T
ENST00000682528.1:n.4559A>T
ENST00000682673.1:n.4426A>T
ENST00000682805.1:n.4887A>T
ENST00000682965.1:c.*689A>T	ENSP00000508229.1:n.*689A>T
ENST00000683093.1:n.5566A>T
ENST00000683136.1:c.4150A>T	ENSP00000507768.1:p.Ile1384Phe
ENST00000683153.1:n.4524A>T
ENST00000683365.1:n.4584A>T
ENST00000683377.1:n.4482A>T
ENST00000683456.1:c.*1404A>T	ENSP00000508318.1:n.*1404A>T
ENST00000683522.1:n.4482A>T
ENST00000683562.1:c.*2436A>T	ENSP00000508265.1:n.*2436A>T
ENST00000683693.1:n.6047A>T
ENST00000683725.1:c.4267A>T	ENSP00000507496.1:p.Ile1423Phe
ENST00000684010.1:n.4477A>T
ENST00000684157.1:n.5467A>T
ENST00000684253.1:n.4385A>T
ENST00000684288.1:c.*2439A>T	ENSP00000507143.1:n.*2439A>T
ENST00000684313.1:n.3914A>T
ENST00000684332.1:n.4555A>T
ENST00000684371.1:n.4588A>T
ENST00000684404.1:n.5510A>T
ENST00000684442.1:n.4706A>T
ENST00000684555.1:c.*2479A>T	ENSP00000507705.1:n.*2479A>T
ENST00000684571.1:c.4108A>T	ENSP00000506935.1:p.Ile1370Phe
ENST00000684593.1:c.*3972A>T	ENSP00000507005.1:n.*3972A>T
ENST00000684711.1:c.*2663A>T	ENSP00000506841.1:n.*2663A>T
ENST00000302539.9:c.4270A>T	ENSP00000303960.4:p.Ile1424Phe
ENST00000389817.8:c.4267A>T MANE Select	ENSP00000374467.4:p.Ile1423Phe
ENST00000642271.1:c.4264A>T	ENSP00000493749.1:p.Ile1422Phe
ENST00000642579.1:c.2321A>T
ENST00000642611.1:n.5485A>T
ENST00000642902.1:c.4049A>T
ENST00000643260.1:c.4267A>T	ENSP00000494450.1:p.Ile1423Phe
ENST00000643562.1:c.*2389A>T	ENSP00000496124.1:n.*2389A>T
ENST00000643925.1:c.2907A>T
ENST00000644057.1:n.344A>T
ENST00000644484.1:c.*3653A>T	ENSP00000493558.1:n.*3653A>T
ENST00000644675.1:c.*2439A>T	ENSP00000494567.1:n.*2439A>T
ENST00000644757.1:c.*3202+614A>T	ENSP00000495085.1:n.*3202+614A>T
ENST00000644772.1:c.4333A>T	ENSP00000494321.1:p.Ile1445Phe
ENST00000645004.1:n.1960A>T
ENST00000645076.1:c.3466A>T
ENST00000645417.1:c.1455A>T
ENST00000645744.1:c.*3964-12A>T	ENSP00000494564.1:n.*3964-12A>T
ENST00000645760.1:c.4688A>T
ENST00000645884.1:c.*1550A>T	ENSP00000495516.1:n.*1550A>T
ENST00000646003.1:c.*2301-12A>T	ENSP00000495259.1:n.*2301-12A>T
ENST00000646207.1:c.*3104A>T	ENSP00000495025.1:n.*3104A>T
ENST00000646276.1:c.*3671A>T	ENSP00000496070.1:n.*3671A>T
ENST00000646592.1:c.3573A>T
ENST00000646902.1:c.4234A>T	ENSP00000494101.1:p.Ile1412Phe
ENST00000646993.1:c.*2809A>T	ENSP00000493720.1:n.*2809A>T
ENST00000647013.1:c.4273A>T	ENSP00000496741.1:n.4273A>T
ENST00000647015.1:c.4018A>T	ENSP00000495389.1:p.Ile1340Phe
ENST00000647086.1:c.*3853A>T	ENSP00000493677.1:n.*3853A>T
ENST00000647158.1:c.*2554A>T	ENSP00000495744.1:n.*2554A>T
ENST00000302539.8:c.4270A>T	ENSP00000303960.4:p.Ile1424Phe
ENST00000389817.7:c.4267A>T	ENSP00000374467.3:p.Ile1423Phe
ENST00000525022.1:n.266A>T
ENST00000526037.5:n.131A>T
ENST00000526168.5:c.67-12A>T
ENST00000531642.5:c.103A>T
NM_000352.4:c.4267A>T	NP_000343.2:p.Ile1423Phe
NM_001287174.1:c.4270A>T	NP_001274103.1:p.Ile1424Phe
XM_011520331.1:c.4267A>T	XP_011518633.1:p.Ile1423Phe
XM_011520332.1:c.4270A>T	XP_011518634.1:p.Ile1424Phe
XM_011520333.1:c.2767A>T	XP_011518635.1:p.Ile923Phe
XR_930890.1:n.4333A>T
NM_001351295.1:c.4333A>T	NP_001338224.1:p.Ile1445Phe
NM_001351296.1:c.4267A>T	NP_001338225.1:p.Ile1423Phe
NM_001351297.1:c.4264A>T	NP_001338226.1:p.Ile1422Phe
NR_147094.1:n.4562A>T
XM_017018197.2:c.4336A>T	XP_016873686.1:p.Ile1446Phe
XM_017018199.1:c.4333A>T	XP_016873688.1:p.Ile1445Phe
XM_017018201.2:c.4336A>T	XP_016873690.1:p.Ile1446Phe
XM_017018202.1:c.2833A>T	XP_016873691.1:p.Ile945Phe
XM_017018204.1:c.2224A>T	XP_016873693.1:p.Ile742Phe
XM_024448668.1:c.2635A>T	XP_024304436.1:p.Ile879Phe
XR_001747945.2:n.4408A>T
XR_001747946.2:n.4339A>T
XR_002957189.1:n.6122A>T
NM_000352.6:c.4267A>T MANE Select	NP_000343.2:p.Ile1423Phe
NM_001287174.2:c.4270A>T	NP_001274103.1:p.Ile1424Phe
NM_001351295.2:c.4333A>T	NP_001338224.1:p.Ile1445Phe
NM_001351296.2:c.4267A>T	NP_001338225.1:p.Ile1423Phe
NM_001351297.2:c.4264A>T	NP_001338226.1:p.Ile1422Phe
NR_147094.2:n.4562A>T
NM_001287174.3:c.4270A>T	NP_001274103.1:p.Ile1424Phe