Canonical Allele Identifier: CA46474808

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877904A>G , CM000664.2:g.43877904A>G	GRCh38
NC_000002.11:g.44105043A>G , CM000664.1:g.44105043A>G	GRCh37
NC_000002.10:g.43958547A>G	NCBI36
NG_008884.1:g.43941A>G
NG_008884.2:g.50963A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.2013A>G MANE Select	NP_071882.1:p.Gln671=
ENST00000272286.4:c.2013A>G MANE Select	ENSP00000272286.2:p.Gln671=
NM_001357321.1:c.2010A>G	NP_001344250.1:p.Gln670=
NM_001357321.2:c.2010A>G	NP_001344250.1:p.Gln670=
NM_022437.2:c.2013A>G	NP_071882.1:p.Gln671=
ENST00000272286.2:c.2013A>G	ENSP00000272286.2:p.Gln671=
XM_005264483.2:c.2010A>G	XP_005264540.1:p.Gln670=
XM_011533029.1:c.2025A>G	XP_011531331.1:p.Gln675=
XM_011533029.2:c.2025A>G	XP_011531331.1:p.Gln675=
XM_011533030.1:c.2022A>G	XP_011531332.1:p.Gln674=
XM_011533030.2:c.2022A>G	XP_011531332.1:p.Gln674=
XM_011533031.1:c.1797A>G	XP_011531333.1:p.Gln599=
XR_001738891.1:n.2529A>G
XR_939707.1:n.2515A>G
XR_939707.2:n.2529A>G