Canonical Allele Identifier: CA346670707

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875398A>C , CM000664.2:g.43875398A>C	GRCh38
NC_000002.11:g.44102537A>C , CM000664.1:g.44102537A>C	GRCh37
NC_000002.10:g.43956041A>C	NCBI36
NG_008884.1:g.41435A>C
NG_008884.2:g.48457A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1741A>C MANE Select	NP_071882.1:p.Ser581Arg
ENST00000272286.4:c.1741A>C MANE Select	ENSP00000272286.2:p.Ser581Arg
NM_001357321.1:c.1738A>C	NP_001344250.1:p.Ser580Arg
NM_001357321.2:c.1738A>C	NP_001344250.1:p.Ser580Arg
NM_022437.2:c.1741A>C	NP_071882.1:p.Ser581Arg
ENST00000272286.2:c.1741A>C	ENSP00000272286.2:p.Ser581Arg
XM_005264483.2:c.1738A>C	XP_005264540.1:p.Ser580Arg
XM_011533029.1:c.1753A>C	XP_011531331.1:p.Ser585Arg
XM_011533029.2:c.1753A>C	XP_011531331.1:p.Ser585Arg
XM_011533030.1:c.1750A>C	XP_011531332.1:p.Ser584Arg
XM_011533030.2:c.1750A>C	XP_011531332.1:p.Ser584Arg
XM_011533031.1:c.1525A>C	XP_011531333.1:p.Ser509Arg
XR_001738891.1:n.2257A>C
XR_939707.1:n.2243A>C
XR_939707.2:n.2257A>C