Canonical Allele Identifier: CA379783064

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415864C>A (hg19) ; chr11:g.17394317C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394317C>A , CM000673.2:g.17394317C>A	GRCh38
NC_000011.9:g.17415864C>A , CM000673.1:g.17415864C>A	GRCh37
NC_000011.8:g.17372440C>A	NCBI36
NG_008867.1:g.87586G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4095G>T
ENST00000526037.6:n.429G>T
ENST00000528374.2:c.1085G>T
ENST00000529967.6:n.2833G>T
ENST00000532220.2:n.3727G>T
ENST00000642611.2:n.5827G>T
ENST00000644057.2:n.1070G>T
ENST00000645004.2:n.1993G>T
ENST00000682051.1:n.4656G>T
ENST00000682110.1:n.4709G>T
ENST00000682140.1:c.*280G>T	ENSP00000507829.1:n.*280G>T
ENST00000682185.1:n.5799G>T
ENST00000682204.1:c.*2632G>T	ENSP00000507094.1:n.*2632G>T
ENST00000682215.1:n.5076G>T
ENST00000682288.1:c.*2925G>T	ENSP00000507506.1:n.*2925G>T
ENST00000682442.1:n.4929G>T
ENST00000682528.1:n.4786G>T
ENST00000682673.1:n.4653G>T
ENST00000682805.1:n.5114G>T
ENST00000682965.1:c.*916G>T	ENSP00000508229.1:n.*916G>T
ENST00000683093.1:n.5689G>T
ENST00000683136.1:c.4377G>T	ENSP00000507768.1:p.Lys1459Asn
ENST00000683153.1:n.4751G>T
ENST00000683365.1:n.4811G>T
ENST00000683377.1:n.4605G>T
ENST00000683456.1:c.*1631G>T	ENSP00000508318.1:n.*1631G>T
ENST00000683522.1:n.4791G>T
ENST00000683562.1:c.*2559G>T	ENSP00000508265.1:n.*2559G>T
ENST00000683693.1:n.6170G>T
ENST00000683725.1:c.4390G>T	ENSP00000507496.1:p.Asp1464Tyr
ENST00000684010.1:n.4704G>T
ENST00000684014.1:n.681G>T
ENST00000684157.1:n.5694G>T
ENST00000684253.1:n.4612G>T
ENST00000684288.1:c.*2666G>T	ENSP00000507143.1:n.*2666G>T
ENST00000684313.1:n.4141G>T
ENST00000684332.1:n.4782G>T
ENST00000684371.1:n.4815G>T
ENST00000684404.1:n.5737G>T
ENST00000684442.1:n.4933G>T
ENST00000684555.1:c.*2706G>T	ENSP00000507705.1:n.*2706G>T
ENST00000684571.1:c.4335G>T	ENSP00000506935.1:p.Lys1445Asn
ENST00000684593.1:c.*4199G>T	ENSP00000507005.1:n.*4199G>T
ENST00000684711.1:c.*2890G>T	ENSP00000506841.1:n.*2890G>T
ENST00000302539.9:c.4497G>T	ENSP00000303960.4:p.Lys1499Asn
ENST00000389817.8:c.4494G>T MANE Select	ENSP00000374467.4:p.Lys1498Asn
ENST00000642271.1:c.4491G>T	ENSP00000493749.1:p.Lys1497Asn
ENST00000642579.1:c.2548G>T
ENST00000642611.1:n.5712G>T
ENST00000642902.1:c.4276G>T
ENST00000643260.1:c.4494G>T	ENSP00000494450.1:p.Lys1498Asn
ENST00000643562.1:c.*2616G>T	ENSP00000496124.1:n.*2616G>T
ENST00000643925.1:c.3134G>T
ENST00000644057.1:n.653G>T
ENST00000644484.1:c.*3880G>T	ENSP00000493558.1:n.*3880G>T
ENST00000644675.1:c.*2666G>T	ENSP00000494567.1:n.*2666G>T
ENST00000644757.1:c.*3203-1337G>T	ENSP00000495085.1:n.*3203-1337G>T
ENST00000644772.1:c.4560G>T	ENSP00000494321.1:p.Lys1520Asn
ENST00000645004.1:n.2187G>T
ENST00000645076.1:c.3589G>T
ENST00000645417.1:c.1682G>T
ENST00000645744.1:c.*4179G>T	ENSP00000494564.1:n.*4179G>T
ENST00000645760.1:c.4915G>T
ENST00000645884.1:c.*1777G>T	ENSP00000495516.1:n.*1777G>T
ENST00000646003.1:c.*2516G>T	ENSP00000495259.1:n.*2516G>T
ENST00000646207.1:c.*3331G>T	ENSP00000495025.1:n.*3331G>T
ENST00000646276.1:c.*3898G>T	ENSP00000496070.1:n.*3898G>T
ENST00000646592.1:c.3800G>T
ENST00000646902.1:c.4461G>T	ENSP00000494101.1:p.Lys1487Asn
ENST00000646993.1:c.*2932G>T	ENSP00000493720.1:n.*2932G>T
ENST00000647013.1:c.4500G>T	ENSP00000496741.1:n.4500G>T
ENST00000647015.1:c.4245G>T	ENSP00000495389.1:p.Lys1415Asn
ENST00000647086.1:c.*4080G>T	ENSP00000493677.1:n.*4080G>T
ENST00000647158.1:c.*2781G>T	ENSP00000495744.1:n.*2781G>T
ENST00000302539.8:c.4497G>T	ENSP00000303960.4:p.Lys1499Asn
ENST00000389817.7:c.4494G>T	ENSP00000374467.3:p.Lys1498Asn
ENST00000525022.1:n.389G>T
ENST00000526037.5:n.254G>T
ENST00000526168.5:c.282G>T
ENST00000531642.5:c.525G>T
NM_000352.4:c.4494G>T	NP_000343.2:p.Lys1498Asn
NM_001287174.1:c.4497G>T	NP_001274103.1:p.Lys1499Asn
XM_011520331.1:c.4494G>T	XP_011518633.1:p.Lys1498Asn
XM_011520332.1:c.4393G>T	XP_011518634.1:p.Asp1465Tyr
XM_011520333.1:c.2994G>T	XP_011518635.1:p.Lys998Asn
XR_930890.1:n.4456G>T
NM_001351295.1:c.4560G>T	NP_001338224.1:p.Lys1520Asn
NM_001351296.1:c.4494G>T	NP_001338225.1:p.Lys1498Asn
NM_001351297.1:c.4491G>T	NP_001338226.1:p.Lys1497Asn
NR_147094.1:n.4789G>T
XM_017018197.2:c.4563G>T	XP_016873686.1:p.Lys1521Asn
XM_017018199.1:c.4560G>T	XP_016873688.1:p.Lys1520Asn
XM_017018201.2:c.4459G>T	XP_016873690.1:p.Asp1487Tyr
XM_017018202.1:c.3060G>T	XP_016873691.1:p.Lys1020Asn
XM_017018204.1:c.2451G>T	XP_016873693.1:p.Lys817Asn
XM_024448668.1:c.2862G>T	XP_024304436.1:p.Lys954Asn
XR_001747945.2:n.4531G>T
XR_001747946.2:n.4462G>T
XR_002957189.1:n.6245G>T
NM_000352.6:c.4494G>T MANE Select	NP_000343.2:p.Lys1498Asn
NM_001287174.2:c.4497G>T	NP_001274103.1:p.Lys1499Asn
NM_001351295.2:c.4560G>T	NP_001338224.1:p.Lys1520Asn
NM_001351296.2:c.4494G>T	NP_001338225.1:p.Lys1498Asn
NM_001351297.2:c.4491G>T	NP_001338226.1:p.Lys1497Asn
NR_147094.2:n.4789G>T
NM_001287174.3:c.4497G>T	NP_001274103.1:p.Lys1499Asn