Canonical Allele Identifier: CA1636987

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43851592A>C , CM000664.2:g.43851592A>C	GRCh38
NC_000002.11:g.44078731A>C , CM000664.1:g.44078731A>C	GRCh37
NC_000002.10:g.43932235A>C	NCBI36
NG_008884.1:g.17629A>C
NG_008884.2:g.24651A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.331A>C MANE Select	NP_071882.1:p.Arg111=
ENST00000272286.4:c.331A>C MANE Select	ENSP00000272286.2:p.Arg111=
NM_001357321.1:c.331A>C	NP_001344250.1:p.Arg111=
NM_001357321.2:c.331A>C	NP_001344250.1:p.Arg111=
NM_022437.2:c.331A>C	NP_071882.1:p.Arg111=
ENST00000272286.2:c.331A>C	ENSP00000272286.2:p.Arg111=
ENST00000644611.1:c.343A>C	ENSP00000495423.1:p.Arg115=
XM_005264483.2:c.331A>C	XP_005264540.1:p.Arg111=
XM_011533029.1:c.343A>C	XP_011531331.1:p.Arg115=
XM_011533029.2:c.343A>C	XP_011531331.1:p.Arg115=
XM_011533030.1:c.343A>C	XP_011531332.1:p.Arg115=
XM_011533030.2:c.343A>C	XP_011531332.1:p.Arg115=
XM_011533031.1:c.115A>C	XP_011531333.1:p.Arg39=
XR_001738891.1:n.847A>C
XR_939707.1:n.833A>C
XR_939707.2:n.847A>C