Canonical Allele Identifier: CA1637032
Gene: ABCG8 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.43851752G>A
GRCh37 chr2:g.44078891G>A
Revel Score:
ENST00000272286 (MANE Select) 0.600
gnomAD v2:
2:44078891 G / A
gnomAD v3:
2:43851752 G / A
gnomAD v4:
chr2-43851752-G-A
Joint Max Group AF 0.00759281 (AFR)
Genomes Max Group AF 0.00670345 (AFR)
Exomes Max Group AF 0.0082115 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43851752G>A , CM000664.2:g.43851752G>A GRCh38
NC_000002.11:g.44078891G>A , CM000664.1:g.44078891G>A GRCh37
NC_000002.10:g.43932395G>A NCBI36
NG_008884.1:g.17789G>A
NG_008884.2:g.24811G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.491G>A MANE Select ENSP00000272286.2:p.Arg164Gln
ENST00000644611.1:c.503G>A ENSP00000495423.1:p.Arg168Gln
ENST00000272286.2:c.491G>A ENSP00000272286.2:p.Arg164Gln
NM_022437.2:c.491G>A NP_071882.1:p.Arg164Gln
XM_005264483.2:c.491G>A XP_005264540.1:p.Arg164Gln
XM_011533029.1:c.503G>A XP_011531331.1:p.Arg168Gln
XM_011533030.1:c.503G>A XP_011531332.1:p.Arg168Gln
XM_011533031.1:c.275G>A XP_011531333.1:p.Arg92Gln
XR_939707.1:n.993G>A
NM_001357321.1:c.491G>A NP_001344250.1:p.Arg164Gln
XM_011533029.2:c.503G>A XP_011531331.1:p.Arg168Gln
XM_011533030.2:c.503G>A XP_011531332.1:p.Arg168Gln
XR_001738891.1:n.1007G>A
XR_939707.2:n.1007G>A
NM_022437.3:c.491G>A MANE Select NP_071882.1:p.Arg164Gln
NM_001357321.2:c.491G>A NP_001344250.1:p.Arg164Gln
Search 100 bp 5'
Search 100 bp 3'