Canonical Allele Identifier: CA46435192

Gene: ABCG8

Identifiers and link-outs to other resources

• 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

Transcript Alleles

HGVS	Amino-acid change
NM_022437.2:c.322+431T>C VV	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.=
XR_939707.1:n.824+431T>C
NM_001357321.1:c.322+431T>C VV	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.=
XR_001738891.1:n.838+431T>C
XR_939707.2:n.838+431T>C
NM_022437.3:c.322+431T>C VV MANE Preferred	NP_071882.1:p.=
ENST00000272286.2:c.322+431T>C	ENSP00000272286.2:p.=