Canonical Allele Identifier: CA2842501239

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846565A>G , CM000664.2:g.43846565A>G	GRCh38
NC_000002.11:g.44073704A>G , CM000664.1:g.44073704A>G	GRCh37
NC_000002.10:g.43927208A>G	NCBI36
NG_008884.1:g.12602A>G
NG_008884.2:g.19624A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.322+254A>G MANE Select	ENSP00000272286.2:n.322+254A>G
ENST00000643284.1:n.1033A>G
ENST00000644611.1:c.334+254A>G	ENSP00000495423.1:n.334+254A>G
ENST00000272286.2:c.322+254A>G	ENSP00000272286.2:n.322+254A>G
NM_022437.2:c.322+254A>G	NP_071882.1:n.322+254A>G
XM_005264483.2:c.322+254A>G	XP_005264540.1:n.322+254A>G
XM_011533029.1:c.334+254A>G	XP_011531331.1:n.334+254A>G
XM_011533030.1:c.334+254A>G	XP_011531332.1:n.334+254A>G
XM_011533031.1:c.106+254A>G	XP_011531333.1:n.106+254A>G
XR_939707.1:n.824+254A>G
NM_001357321.1:c.322+254A>G	NP_001344250.1:n.322+254A>G
XM_011533029.2:c.334+254A>G	XP_011531331.1:n.334+254A>G
XM_011533030.2:c.334+254A>G	XP_011531332.1:n.334+254A>G
XR_001738891.1:n.838+254A>G
XR_939707.2:n.838+254A>G
NM_022437.3:c.322+254A>G MANE Select	NP_071882.1:n.322+254A>G
NM_001357321.2:c.322+254A>G	NP_001344250.1:n.322+254A>G