Canonical Allele Identifier: CA379787175

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395698-T-A
• MyVariant Identifiers: chr11:g.17417245T>A (hg19) ; chr11:g.17395698T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395698T>A , CM000673.2:g.17395698T>A	GRCh38
NC_000011.9:g.17417245T>A , CM000673.1:g.17417245T>A	GRCh37
NC_000011.8:g.17373821T>A	NCBI36
NG_008867.1:g.86205A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3820A>T
ENST00000528374.2:c.810A>T
ENST00000529967.6:n.2558A>T
ENST00000532220.2:n.3452A>T
ENST00000642611.2:n.5552A>T
ENST00000644057.2:n.795A>T
ENST00000645004.2:n.1718A>T
ENST00000682051.1:n.4381A>T
ENST00000682110.1:n.4434A>T
ENST00000682140.1:c.*5A>T	ENSP00000507829.1:n.*5A>T
ENST00000682185.1:n.5524A>T
ENST00000682204.1:c.*2357A>T	ENSP00000507094.1:n.*2357A>T
ENST00000682215.1:n.4801A>T
ENST00000682288.1:c.*2650A>T	ENSP00000507506.1:n.*2650A>T
ENST00000682442.1:n.4654A>T
ENST00000682528.1:n.4511A>T
ENST00000682673.1:n.4378A>T
ENST00000682805.1:n.4839A>T
ENST00000682965.1:c.*641A>T	ENSP00000508229.1:n.*641A>T
ENST00000683093.1:n.5518A>T
ENST00000683136.1:c.4102A>T	ENSP00000507768.1:p.Ile1368Phe
ENST00000683153.1:n.4476A>T
ENST00000683365.1:n.4536A>T
ENST00000683377.1:n.4434A>T
ENST00000683456.1:c.*1356A>T	ENSP00000508318.1:n.*1356A>T
ENST00000683522.1:n.4434A>T
ENST00000683562.1:c.*2388A>T	ENSP00000508265.1:n.*2388A>T
ENST00000683693.1:n.5999A>T
ENST00000683725.1:c.4219A>T	ENSP00000507496.1:p.Ile1407Phe
ENST00000684010.1:n.4429A>T
ENST00000684157.1:n.5419A>T
ENST00000684253.1:n.4337A>T
ENST00000684288.1:c.*2391A>T	ENSP00000507143.1:n.*2391A>T
ENST00000684313.1:n.3866A>T
ENST00000684332.1:n.4507A>T
ENST00000684371.1:n.4540A>T
ENST00000684404.1:n.5462A>T
ENST00000684442.1:n.4658A>T
ENST00000684555.1:c.*2431A>T	ENSP00000507705.1:n.*2431A>T
ENST00000684571.1:c.4060A>T	ENSP00000506935.1:p.Ile1354Phe
ENST00000684593.1:c.*3924A>T	ENSP00000507005.1:n.*3924A>T
ENST00000684711.1:c.*2615A>T	ENSP00000506841.1:n.*2615A>T
ENST00000302539.9:c.4222A>T	ENSP00000303960.4:p.Ile1408Phe
ENST00000389817.8:c.4219A>T MANE Select	ENSP00000374467.4:p.Ile1407Phe
ENST00000642271.1:c.4216A>T	ENSP00000493749.1:p.Ile1406Phe
ENST00000642579.1:c.2273A>T
ENST00000642611.1:n.5437A>T
ENST00000642902.1:c.4001A>T
ENST00000643260.1:c.4219A>T	ENSP00000494450.1:p.Ile1407Phe
ENST00000643562.1:c.*2341A>T	ENSP00000496124.1:n.*2341A>T
ENST00000643925.1:c.2859A>T
ENST00000644057.1:n.296A>T
ENST00000644484.1:c.*3605A>T	ENSP00000493558.1:n.*3605A>T
ENST00000644675.1:c.*2391A>T	ENSP00000494567.1:n.*2391A>T
ENST00000644757.1:c.*3202+566A>T	ENSP00000495085.1:n.*3202+566A>T
ENST00000644772.1:c.4285A>T	ENSP00000494321.1:p.Ile1429Phe
ENST00000645004.1:n.1912A>T
ENST00000645076.1:c.3418A>T
ENST00000645417.1:c.1407A>T
ENST00000645744.1:c.*3964-60A>T	ENSP00000494564.1:n.*3964-60A>T
ENST00000645760.1:c.4640A>T
ENST00000645884.1:c.*1502A>T	ENSP00000495516.1:n.*1502A>T
ENST00000646003.1:c.*2301-60A>T	ENSP00000495259.1:n.*2301-60A>T
ENST00000646207.1:c.*3056A>T	ENSP00000495025.1:n.*3056A>T
ENST00000646276.1:c.*3623A>T	ENSP00000496070.1:n.*3623A>T
ENST00000646592.1:c.3525A>T
ENST00000646902.1:c.4186A>T	ENSP00000494101.1:p.Ile1396Phe
ENST00000646993.1:c.*2761A>T	ENSP00000493720.1:n.*2761A>T
ENST00000647013.1:c.4225A>T	ENSP00000496741.1:n.4225A>T
ENST00000647015.1:c.3970A>T	ENSP00000495389.1:p.Ile1324Phe
ENST00000647086.1:c.*3805A>T	ENSP00000493677.1:n.*3805A>T
ENST00000647158.1:c.*2506A>T	ENSP00000495744.1:n.*2506A>T
ENST00000302539.8:c.4222A>T	ENSP00000303960.4:p.Ile1408Phe
ENST00000389817.7:c.4219A>T	ENSP00000374467.3:p.Ile1407Phe
ENST00000525022.1:n.218A>T
ENST00000526037.5:n.83A>T
ENST00000526168.5:c.67-60A>T
ENST00000531642.5:c.55A>T
NM_000352.4:c.4219A>T	NP_000343.2:p.Ile1407Phe
NM_001287174.1:c.4222A>T	NP_001274103.1:p.Ile1408Phe
XM_011520331.1:c.4219A>T	XP_011518633.1:p.Ile1407Phe
XM_011520332.1:c.4222A>T	XP_011518634.1:p.Ile1408Phe
XM_011520333.1:c.2719A>T	XP_011518635.1:p.Ile907Phe
XR_930890.1:n.4285A>T
NM_001351295.1:c.4285A>T	NP_001338224.1:p.Ile1429Phe
NM_001351296.1:c.4219A>T	NP_001338225.1:p.Ile1407Phe
NM_001351297.1:c.4216A>T	NP_001338226.1:p.Ile1406Phe
NR_147094.1:n.4514A>T
XM_017018197.2:c.4288A>T	XP_016873686.1:p.Ile1430Phe
XM_017018199.1:c.4285A>T	XP_016873688.1:p.Ile1429Phe
XM_017018201.2:c.4288A>T	XP_016873690.1:p.Ile1430Phe
XM_017018202.1:c.2785A>T	XP_016873691.1:p.Ile929Phe
XM_017018204.1:c.2176A>T	XP_016873693.1:p.Ile726Phe
XM_024448668.1:c.2587A>T	XP_024304436.1:p.Ile863Phe
XR_001747945.2:n.4360A>T
XR_001747946.2:n.4291A>T
XR_002957189.1:n.6074A>T
NM_000352.6:c.4219A>T MANE Select	NP_000343.2:p.Ile1407Phe
NM_001287174.2:c.4222A>T	NP_001274103.1:p.Ile1408Phe
NM_001351295.2:c.4285A>T	NP_001338224.1:p.Ile1429Phe
NM_001351296.2:c.4219A>T	NP_001338225.1:p.Ile1407Phe
NM_001351297.2:c.4216A>T	NP_001338226.1:p.Ile1406Phe
NR_147094.2:n.4514A>T
NM_001287174.3:c.4222A>T	NP_001274103.1:p.Ile1408Phe