Canonical Allele Identifier: CA346665564

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43851794C>A , CM000664.2:g.43851794C>A	GRCh38
NC_000002.11:g.44078933C>A , CM000664.1:g.44078933C>A	GRCh37
NC_000002.10:g.43932437C>A	NCBI36
NG_008884.1:g.17831C>A
NG_008884.2:g.24853C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.533C>A MANE Select	NP_071882.1:p.Thr178Asn
ENST00000272286.4:c.533C>A MANE Select	ENSP00000272286.2:p.Thr178Asn
NM_001357321.1:c.533C>A	NP_001344250.1:p.Thr178Asn
NM_001357321.2:c.533C>A	NP_001344250.1:p.Thr178Asn
NM_022437.2:c.533C>A	NP_071882.1:p.Thr178Asn
ENST00000272286.2:c.533C>A	ENSP00000272286.2:p.Thr178Asn
ENST00000644611.1:c.545C>A	ENSP00000495423.1:p.Thr182Asn
XM_005264483.2:c.533C>A	XP_005264540.1:p.Thr178Asn
XM_011533029.1:c.545C>A	XP_011531331.1:p.Thr182Asn
XM_011533029.2:c.545C>A	XP_011531331.1:p.Thr182Asn
XM_011533030.1:c.545C>A	XP_011531332.1:p.Thr182Asn
XM_011533030.2:c.545C>A	XP_011531332.1:p.Thr182Asn
XM_011533031.1:c.317C>A	XP_011531333.1:p.Thr106Asn
XR_001738891.1:n.1049C>A
XR_939707.1:n.1035C>A
XR_939707.2:n.1049C>A