Canonical Allele Identifier: CA2493964959

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877492C= , CM000664.2:g.43877492C=	GRCh38
NC_000002.11:g.44104631C= , CM000664.1:g.44104631C=	GRCh37
NC_000002.10:g.43958135C=	NCBI36
NG_008884.1:g.43529C=
NG_008884.2:g.50551C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-69C= MANE Select	ENSP00000272286.2:n.1757-69C=
ENST00000272286.2:c.1757-69C=	ENSP00000272286.2:n.1757-69C=
NM_022437.2:c.1757-69C=	NP_071882.1:n.1757-69C=
XM_005264483.2:c.1754-69C=	XP_005264540.1:n.1754-69C=
XM_011533029.1:c.1769-69C=	XP_011531331.1:n.1769-69C=
XM_011533030.1:c.1766-69C=	XP_011531332.1:n.1766-69C=
XM_011533031.1:c.1541-69C=	XP_011531333.1:n.1541-69C=
XR_939707.1:n.2259-69C=
NM_001357321.1:c.1754-69C=	NP_001344250.1:n.1754-69C=
XM_011533029.2:c.1769-69C=	XP_011531331.1:n.1769-69C=
XM_011533030.2:c.1766-69C=	XP_011531332.1:n.1766-69C=
XR_001738891.1:n.2273-69C=
XR_939707.2:n.2273-69C=
NM_022437.3:c.1757-69C= MANE Select	NP_071882.1:n.1757-69C=
NM_001357321.2:c.1754-69C=	NP_001344250.1:n.1754-69C=