Canonical Allele Identifier: CA426116400

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102423A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875284A>C , CM000664.2:g.43875284A>C	GRCh38
NC_000002.11:g.44102423A>C , CM000664.1:g.44102423A>C	GRCh37
NC_000002.10:g.43955927A>C	NCBI36
NG_008884.1:g.41321A>C
NG_008884.2:g.48343A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1627A>C MANE Select	ENSP00000272286.2:p.Arg543=
ENST00000272286.2:c.1627A>C	ENSP00000272286.2:p.Arg543=
NM_022437.2:c.1627A>C	NP_071882.1:p.Arg543=
XM_005264483.2:c.1624A>C	XP_005264540.1:p.Arg542=
XM_011533029.1:c.1639A>C	XP_011531331.1:p.Arg547=
XM_011533030.1:c.1636A>C	XP_011531332.1:p.Arg546=
XM_011533031.1:c.1411A>C	XP_011531333.1:p.Arg471=
XR_939707.1:n.2129A>C
NM_001357321.1:c.1624A>C	NP_001344250.1:p.Arg542=
XM_011533029.2:c.1639A>C	XP_011531331.1:p.Arg547=
XM_011533030.2:c.1636A>C	XP_011531332.1:p.Arg546=
XR_001738891.1:n.2143A>C
XR_939707.2:n.2143A>C
NM_022437.3:c.1627A>C MANE Select	NP_071882.1:p.Arg543=
NM_001357321.2:c.1624A>C	NP_001344250.1:p.Arg542=