Canonical Allele Identifier: CA426116396

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102419T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875280T>C , CM000664.2:g.43875280T>C	GRCh38
NC_000002.11:g.44102419T>C , CM000664.1:g.44102419T>C	GRCh37
NC_000002.10:g.43955923T>C	NCBI36
NG_008884.1:g.41317T>C
NG_008884.2:g.48339T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1623T>C MANE Select	ENSP00000272286.2:p.Cys541=
ENST00000272286.2:c.1623T>C	ENSP00000272286.2:p.Cys541=
NM_022437.2:c.1623T>C	NP_071882.1:p.Cys541=
XM_005264483.2:c.1620T>C	XP_005264540.1:p.Cys540=
XM_011533029.1:c.1635T>C	XP_011531331.1:p.Cys545=
XM_011533030.1:c.1632T>C	XP_011531332.1:p.Cys544=
XM_011533031.1:c.1407T>C	XP_011531333.1:p.Cys469=
XR_939707.1:n.2125T>C
NM_001357321.1:c.1620T>C	NP_001344250.1:p.Cys540=
XM_011533029.2:c.1635T>C	XP_011531331.1:p.Cys545=
XM_011533030.2:c.1632T>C	XP_011531332.1:p.Cys544=
XR_001738891.1:n.2139T>C
XR_939707.2:n.2139T>C
NM_022437.3:c.1623T>C MANE Select	NP_071882.1:p.Cys541=
NM_001357321.2:c.1620T>C	NP_001344250.1:p.Cys540=