Canonical Allele Identifier: CA2493965316

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878119C= , CM000664.2:g.43878119C=	GRCh38
NC_000002.11:g.44105258C= , CM000664.1:g.44105258C=	GRCh37
NC_000002.10:g.43958762C=	NCBI36
NG_008884.1:g.44156C=
NG_008884.2:g.51178C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*206C= MANE Select	ENSP00000272286.2:n.*206C=
ENST00000272286.2:c.*206C=	ENSP00000272286.2:n.*206C=
NM_022437.2:c.*206C=	NP_071882.1:n.*206C=
XM_005264483.2:c.*206C=	XP_005264540.1:n.*206C=
XM_011533029.1:c.*206C=	XP_011531331.1:n.*206C=
XM_011533030.1:c.*206C=	XP_011531332.1:n.*206C=
XM_011533031.1:c.*206C=	XP_011531333.1:n.*206C=
XR_939707.1:n.2730C=
NM_001357321.1:c.*206C=	NP_001344250.1:n.*206C=
XM_011533029.2:c.*206C=	XP_011531331.1:n.*206C=
XM_011533030.2:c.*206C=	XP_011531332.1:n.*206C=
XR_001738891.1:n.2744C=
XR_939707.2:n.2744C=
NM_022437.3:c.*206C= MANE Select	NP_071882.1:n.*206C=
NM_001357321.2:c.*206C=	NP_001344250.1:n.*206C=