Canonical Allele Identifier: CA346669551

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43873950A>G , CM000664.2:g.43873950A>G	GRCh38
NC_000002.11:g.44101089A>G , CM000664.1:g.44101089A>G	GRCh37
NC_000002.10:g.43954593A>G	NCBI36
NG_008884.1:g.39987A>G
NG_008884.2:g.47009A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1375A>G MANE Select	NP_071882.1:p.Ile459Val
ENST00000272286.4:c.1375A>G MANE Select	ENSP00000272286.2:p.Ile459Val
NM_001357321.1:c.1372A>G	NP_001344250.1:p.Ile458Val
NM_001357321.2:c.1372A>G	NP_001344250.1:p.Ile458Val
NM_022437.2:c.1375A>G	NP_071882.1:p.Ile459Val
ENST00000272286.2:c.1375A>G	ENSP00000272286.2:p.Ile459Val
XM_005264483.2:c.1372A>G	XP_005264540.1:p.Ile458Val
XM_011533029.1:c.1387A>G	XP_011531331.1:p.Ile463Val
XM_011533029.2:c.1387A>G	XP_011531331.1:p.Ile463Val
XM_011533030.1:c.1384A>G	XP_011531332.1:p.Ile462Val
XM_011533030.2:c.1384A>G	XP_011531332.1:p.Ile462Val
XM_011533031.1:c.1159A>G	XP_011531333.1:p.Ile387Val
XR_001738891.1:n.1891A>G
XR_939707.1:n.1877A>G
XR_939707.2:n.1891A>G