Canonical Allele Identifier: CA2658828291

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43846563-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846563G>A , CM000664.2:g.43846563G>A	GRCh38
NC_000002.11:g.44073702G>A , CM000664.1:g.44073702G>A	GRCh37
NC_000002.10:g.43927206G>A	NCBI36
NG_008884.1:g.12600G>A
NG_008884.2:g.19622G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.322+252G>A MANE Select	ENSP00000272286.2:n.322+252G>A
ENST00000643284.1:n.1031G>A
ENST00000644611.1:c.334+252G>A	ENSP00000495423.1:n.334+252G>A
ENST00000272286.2:c.322+252G>A	ENSP00000272286.2:n.322+252G>A
NM_022437.2:c.322+252G>A	NP_071882.1:n.322+252G>A
XM_005264483.2:c.322+252G>A	XP_005264540.1:n.322+252G>A
XM_011533029.1:c.334+252G>A	XP_011531331.1:n.334+252G>A
XM_011533030.1:c.334+252G>A	XP_011531332.1:n.334+252G>A
XM_011533031.1:c.106+252G>A	XP_011531333.1:n.106+252G>A
XR_939707.1:n.824+252G>A
NM_001357321.1:c.322+252G>A	NP_001344250.1:n.322+252G>A
XM_011533029.2:c.334+252G>A	XP_011531331.1:n.334+252G>A
XM_011533030.2:c.334+252G>A	XP_011531332.1:n.334+252G>A
XR_001738891.1:n.838+252G>A
XR_939707.2:n.838+252G>A
NM_022437.3:c.322+252G>A MANE Select	NP_071882.1:n.322+252G>A
NM_001357321.2:c.322+252G>A	NP_001344250.1:n.322+252G>A