Canonical Allele Identifier: CA46435192

Gene: ABCG8

Linked Data

• dbSNP Id: rs6544713
• gnomAD: 2:44073881 T / C
• MyVariant Identifiers: chr2:g.44073881T>C (hg19) ; chr2:g.43846742T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846742T>C , CM000664.2:g.43846742T>C	GRCh38
NC_000002.11:g.44073881T>C , CM000664.1:g.44073881T>C	GRCh37
NC_000002.10:g.43927385T>C	NCBI36
NG_008884.1:g.12779T>C
NG_008884.2:g.19801T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.2:c.322+431T>C	ENSP00000272286.2:p.=
NM_022437.2:c.322+431T>C	NP_071882.1:p.=
XM_005264483.2:c.322+431T>C	XP_005264540.1:p.=
XM_011533029.1:c.334+431T>C	XP_011531331.1:p.=
XM_011533030.1:c.334+431T>C	XP_011531332.1:p.=
XM_011533031.1:c.106+431T>C	XP_011531333.1:p.=
NM_001357321.1:c.322+431T>C	NP_001344250.1:p.=
XM_011533029.2:c.334+431T>C	XP_011531331.1:p.=
XM_011533030.2:c.334+431T>C	XP_011531332.1:p.=
NM_022437.3:c.322+431T>C MANE Select	NP_071882.1:p.=
NM_001357321.2:c.322+431T>C	NP_001344250.1:p.=