Canonical Allele Identifier: CA2493965030

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877616G= , CM000664.2:g.43877616G=	GRCh38
NC_000002.11:g.44104755G= , CM000664.1:g.44104755G=	GRCh37
NC_000002.10:g.43958259G=	NCBI36
NG_008884.1:g.43653G=
NG_008884.2:g.50675G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1812G= MANE Select	ENSP00000272286.2:p.Met604=
ENST00000272286.2:c.1812G=	ENSP00000272286.2:p.Met604=
NM_022437.2:c.1812G=	NP_071882.1:p.Met604=
XM_005264483.2:c.1809G=	XP_005264540.1:p.Met603=
XM_011533029.1:c.1824G=	XP_011531331.1:p.Met608=
XM_011533030.1:c.1821G=	XP_011531332.1:p.Met607=
XM_011533031.1:c.1596G=	XP_011531333.1:p.Met532=
XR_939707.1:n.2314G=
NM_001357321.1:c.1809G=	NP_001344250.1:p.Met603=
XM_011533029.2:c.1824G=	XP_011531331.1:p.Met608=
XM_011533030.2:c.1821G=	XP_011531332.1:p.Met607=
XR_001738891.1:n.2328G=
XR_939707.2:n.2328G=
NM_022437.3:c.1812G= MANE Select	NP_071882.1:p.Met604=
NM_001357321.2:c.1809G=	NP_001344250.1:p.Met603=