Canonical Allele Identifier: CA2493961811

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43872094G= , CM000664.2:g.43872094G=	GRCh38
NC_000002.11:g.44099233G= , CM000664.1:g.44099233G=	GRCh37
NC_000002.10:g.43952737G=	NCBI36
NG_008884.1:g.38131G=
NG_008884.2:g.45153G=

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1083G= MANE Select	NP_071882.1:p.Trp361=
ENST00000272286.4:c.1083G= MANE Select	ENSP00000272286.2:p.Trp361=
NM_001357321.1:c.1083G=	NP_001344250.1:p.Trp361=
NM_001357321.2:c.1083G=	NP_001344250.1:p.Trp361=
NM_022437.2:c.1083G=	NP_071882.1:p.Trp361=
ENST00000272286.2:c.1083G=	ENSP00000272286.2:p.Trp361=
ENST00000644611.1:c.1095G=	ENSP00000495423.1:p.Trp365=
XM_005264483.2:c.1083G=	XP_005264540.1:p.Trp361=
XM_011533029.1:c.1095G=	XP_011531331.1:p.Trp365=
XM_011533029.2:c.1095G=	XP_011531331.1:p.Trp365=
XM_011533030.1:c.1095G=	XP_011531332.1:p.Trp365=
XM_011533030.2:c.1095G=	XP_011531332.1:p.Trp365=
XM_011533031.1:c.867G=	XP_011531333.1:p.Trp289=
XR_001738891.1:n.1599G=
XR_939707.1:n.1585G=
XR_939707.2:n.1599G=