Canonical Allele Identifier: CA46470488

Gene: ABCG8

Linked Data

• dbSNP Id: rs993346284
• gnomAD v4: 2-43875015-A-C
• MyVariant Identifiers: chr2:g.44102154A>C (hg19) ; chr2:g.43875015A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875015A>C , CM000664.2:g.43875015A>C	GRCh38
NC_000002.11:g.44102154A>C , CM000664.1:g.44102154A>C	GRCh37
NC_000002.10:g.43955658A>C	NCBI36
NG_008884.1:g.41052A>C
NG_008884.2:g.48074A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1489-131A>C MANE Select	ENSP00000272286.2:n.1489-131A>C
ENST00000272286.2:c.1489-131A>C	ENSP00000272286.2:n.1489-131A>C
NM_022437.2:c.1489-131A>C	NP_071882.1:n.1489-131A>C
XM_005264483.2:c.1486-131A>C	XP_005264540.1:n.1486-131A>C
XM_011533029.1:c.1501-131A>C	XP_011531331.1:n.1501-131A>C
XM_011533030.1:c.1498-131A>C	XP_011531332.1:n.1498-131A>C
XM_011533031.1:c.1273-131A>C	XP_011531333.1:n.1273-131A>C
XR_939707.1:n.1991-131A>C
NM_001357321.1:c.1486-131A>C	NP_001344250.1:n.1486-131A>C
XM_011533029.2:c.1501-131A>C	XP_011531331.1:n.1501-131A>C
XM_011533030.2:c.1498-131A>C	XP_011531332.1:n.1498-131A>C
XR_001738891.1:n.2005-131A>C
XR_939707.2:n.2005-131A>C
NM_022437.3:c.1489-131A>C MANE Select	NP_071882.1:n.1489-131A>C
NM_001357321.2:c.1486-131A>C	NP_001344250.1:n.1486-131A>C