Canonical Allele Identifier: CA346671520

Gene: ABCG8

Linked Data

• dbSNP Id: rs1670016235
• MyVariant Identifiers: chr2:g.44105023A>C (hg19) ; chr2:g.43877884A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877884A>C , CM000664.2:g.43877884A>C	GRCh38
NC_000002.11:g.44105023A>C , CM000664.1:g.44105023A>C	GRCh37
NC_000002.10:g.43958527A>C	NCBI36
NG_008884.1:g.43921A>C
NG_008884.2:g.50943A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1993A>C MANE Select	ENSP00000272286.2:p.Ile665Leu
ENST00000272286.2:c.1993A>C	ENSP00000272286.2:p.Ile665Leu
NM_022437.2:c.1993A>C	NP_071882.1:p.Ile665Leu
XM_005264483.2:c.1990A>C	XP_005264540.1:p.Ile664Leu
XM_011533029.1:c.2005A>C	XP_011531331.1:p.Ile669Leu
XM_011533030.1:c.2002A>C	XP_011531332.1:p.Ile668Leu
XM_011533031.1:c.1777A>C	XP_011531333.1:p.Ile593Leu
XR_939707.1:n.2495A>C
NM_001357321.1:c.1990A>C	NP_001344250.1:p.Ile664Leu
XM_011533029.2:c.2005A>C	XP_011531331.1:p.Ile669Leu
XM_011533030.2:c.2002A>C	XP_011531332.1:p.Ile668Leu
XR_001738891.1:n.2509A>C
XR_939707.2:n.2509A>C
NM_022437.3:c.1993A>C MANE Select	NP_071882.1:p.Ile665Leu
NM_001357321.2:c.1990A>C	NP_001344250.1:p.Ile664Leu