Canonical Allele Identifier: CA46435294
Gene: ABCG8 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.43846861G>A
GRCh37 chr2:g.44074000G>A
gnomAD v2:
2:44074000 G / A
gnomAD v3:
2:43846861 G / A
gnomAD v4:
chr2-43846861-G-A
Joint Max Group AF 0.07978393 (AFR)
Genomes Max Group AF 0.07984332 (AFR)
Exomes Max Group AF 0.09478708 (AMR)
dbSNP:
4953023
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43846861G>A , CM000664.2:g.43846861G>A GRCh38
NC_000002.11:g.44074000G>A , CM000664.1:g.44074000G>A GRCh37
NC_000002.10:g.43927504G>A NCBI36
NG_008884.1:g.12898G>A
NG_008884.2:g.19920G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.322+550G>A MANE Select ENSP00000272286.2:n.322+550G>A
ENST00000643284.1:n.1329G>A
ENST00000644611.1:c.334+550G>A ENSP00000495423.1:n.334+550G>A
ENST00000272286.2:c.322+550G>A ENSP00000272286.2:n.322+550G>A
NM_022437.2:c.322+550G>A NP_071882.1:n.322+550G>A
XM_005264483.2:c.322+550G>A XP_005264540.1:n.322+550G>A
XM_011533029.1:c.334+550G>A XP_011531331.1:n.334+550G>A
XM_011533030.1:c.334+550G>A XP_011531332.1:n.334+550G>A
XM_011533031.1:c.106+550G>A XP_011531333.1:n.106+550G>A
XR_939707.1:n.824+550G>A
NM_001357321.1:c.322+550G>A NP_001344250.1:n.322+550G>A
XM_011533029.2:c.334+550G>A XP_011531331.1:n.334+550G>A
XM_011533030.2:c.334+550G>A XP_011531332.1:n.334+550G>A
XR_001738891.1:n.838+550G>A
XR_939707.2:n.838+550G>A
NM_022437.3:c.322+550G>A MANE Select NP_071882.1:n.322+550G>A
NM_001357321.2:c.322+550G>A NP_001344250.1:n.322+550G>A
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