Canonical Allele Identifier: CA379787177

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417245T>G (hg19) ; chr11:g.17395698T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3820A>C
ENST00000528374.2:c.810A>C
ENST00000529967.6:n.2558A>C
ENST00000532220.2:n.3452A>C
ENST00000642611.2:n.5552A>C
ENST00000644057.2:n.795A>C
ENST00000645004.2:n.1718A>C
ENST00000682051.1:n.4381A>C
ENST00000682110.1:n.4434A>C
ENST00000682140.1:c.*5A>C	ENSP00000507829.1:n.*5A>C
ENST00000682185.1:n.5524A>C
ENST00000682204.1:c.*2357A>C	ENSP00000507094.1:n.*2357A>C
ENST00000682215.1:n.4801A>C
ENST00000682288.1:c.*2650A>C	ENSP00000507506.1:n.*2650A>C
ENST00000682442.1:n.4654A>C
ENST00000682528.1:n.4511A>C
ENST00000682673.1:n.4378A>C
ENST00000682805.1:n.4839A>C
ENST00000682965.1:c.*641A>C	ENSP00000508229.1:n.*641A>C
ENST00000683093.1:n.5518A>C
ENST00000683136.1:c.4102A>C	ENSP00000507768.1:p.Ile1368Leu
ENST00000683153.1:n.4476A>C
ENST00000683365.1:n.4536A>C
ENST00000683377.1:n.4434A>C
ENST00000683456.1:c.*1356A>C	ENSP00000508318.1:n.*1356A>C
ENST00000683522.1:n.4434A>C
ENST00000683562.1:c.*2388A>C	ENSP00000508265.1:n.*2388A>C
ENST00000683693.1:n.5999A>C
ENST00000683725.1:c.4219A>C	ENSP00000507496.1:p.Ile1407Leu
ENST00000684010.1:n.4429A>C
ENST00000684157.1:n.5419A>C
ENST00000684253.1:n.4337A>C
ENST00000684288.1:c.*2391A>C	ENSP00000507143.1:n.*2391A>C
ENST00000684313.1:n.3866A>C
ENST00000684332.1:n.4507A>C
ENST00000684371.1:n.4540A>C
ENST00000684404.1:n.5462A>C
ENST00000684442.1:n.4658A>C
ENST00000684555.1:c.*2431A>C	ENSP00000507705.1:n.*2431A>C
ENST00000684571.1:c.4060A>C	ENSP00000506935.1:p.Ile1354Leu
ENST00000684593.1:c.*3924A>C	ENSP00000507005.1:n.*3924A>C
ENST00000684711.1:c.*2615A>C	ENSP00000506841.1:n.*2615A>C
ENST00000302539.9:c.4222A>C	ENSP00000303960.4:p.Ile1408Leu
ENST00000389817.8:c.4219A>C MANE Select	ENSP00000374467.4:p.Ile1407Leu
ENST00000642271.1:c.4216A>C	ENSP00000493749.1:p.Ile1406Leu
ENST00000642579.1:c.2273A>C
ENST00000642611.1:n.5437A>C
ENST00000642902.1:c.4001A>C
ENST00000643260.1:c.4219A>C	ENSP00000494450.1:p.Ile1407Leu
ENST00000643562.1:c.*2341A>C	ENSP00000496124.1:n.*2341A>C
ENST00000643925.1:c.2859A>C
ENST00000644057.1:n.296A>C
ENST00000644484.1:c.*3605A>C	ENSP00000493558.1:n.*3605A>C
ENST00000644675.1:c.*2391A>C	ENSP00000494567.1:n.*2391A>C
ENST00000644757.1:c.*3202+566A>C	ENSP00000495085.1:n.*3202+566A>C
ENST00000644772.1:c.4285A>C	ENSP00000494321.1:p.Ile1429Leu
ENST00000645004.1:n.1912A>C
ENST00000645076.1:c.3418A>C
ENST00000645417.1:c.1407A>C
ENST00000645744.1:c.*3964-60A>C	ENSP00000494564.1:n.*3964-60A>C
ENST00000645760.1:c.4640A>C
ENST00000645884.1:c.*1502A>C	ENSP00000495516.1:n.*1502A>C
ENST00000646003.1:c.*2301-60A>C	ENSP00000495259.1:n.*2301-60A>C
ENST00000646207.1:c.*3056A>C	ENSP00000495025.1:n.*3056A>C
ENST00000646276.1:c.*3623A>C	ENSP00000496070.1:n.*3623A>C
ENST00000646592.1:c.3525A>C
ENST00000646902.1:c.4186A>C	ENSP00000494101.1:p.Ile1396Leu
ENST00000646993.1:c.*2761A>C	ENSP00000493720.1:n.*2761A>C
ENST00000647013.1:c.4225A>C	ENSP00000496741.1:n.4225A>C
ENST00000647015.1:c.3970A>C	ENSP00000495389.1:p.Ile1324Leu
ENST00000647086.1:c.*3805A>C	ENSP00000493677.1:n.*3805A>C
ENST00000647158.1:c.*2506A>C	ENSP00000495744.1:n.*2506A>C
ENST00000302539.8:c.4222A>C	ENSP00000303960.4:p.Ile1408Leu
ENST00000389817.7:c.4219A>C	ENSP00000374467.3:p.Ile1407Leu
ENST00000525022.1:n.218A>C
ENST00000526037.5:n.83A>C
ENST00000526168.5:c.67-60A>C
ENST00000531642.5:c.55A>C
NM_000352.4:c.4219A>C	NP_000343.2:p.Ile1407Leu
NM_001287174.1:c.4222A>C	NP_001274103.1:p.Ile1408Leu
XM_011520331.1:c.4219A>C	XP_011518633.1:p.Ile1407Leu
XM_011520332.1:c.4222A>C	XP_011518634.1:p.Ile1408Leu
XM_011520333.1:c.2719A>C	XP_011518635.1:p.Ile907Leu
XR_930890.1:n.4285A>C
NM_001351295.1:c.4285A>C	NP_001338224.1:p.Ile1429Leu
NM_001351296.1:c.4219A>C	NP_001338225.1:p.Ile1407Leu
NM_001351297.1:c.4216A>C	NP_001338226.1:p.Ile1406Leu
NR_147094.1:n.4514A>C
XM_017018197.2:c.4288A>C	XP_016873686.1:p.Ile1430Leu
XM_017018199.1:c.4285A>C	XP_016873688.1:p.Ile1429Leu
XM_017018201.2:c.4288A>C	XP_016873690.1:p.Ile1430Leu
XM_017018202.1:c.2785A>C	XP_016873691.1:p.Ile929Leu
XM_017018204.1:c.2176A>C	XP_016873693.1:p.Ile726Leu
XM_024448668.1:c.2587A>C	XP_024304436.1:p.Ile863Leu
XR_001747945.2:n.4360A>C
XR_001747946.2:n.4291A>C
XR_002957189.1:n.6074A>C
NM_000352.6:c.4219A>C MANE Select	NP_000343.2:p.Ile1407Leu
NM_001287174.2:c.4222A>C	NP_001274103.1:p.Ile1408Leu
NM_001351295.2:c.4285A>C	NP_001338224.1:p.Ile1429Leu
NM_001351296.2:c.4219A>C	NP_001338225.1:p.Ile1407Leu
NM_001351297.2:c.4216A>C	NP_001338226.1:p.Ile1406Leu
NR_147094.2:n.4514A>C
NM_001287174.3:c.4222A>C	NP_001274103.1:p.Ile1408Leu