Canonical Allele Identifier: CA226904
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94063263G>A
GRCh37 chr1:g.94528819G>A
Revel Score:
ENST00000370225 (MANE Select) 0.838
ENST00000535735 0.838
gnomAD v2:
1:94528819 G / A
gnomAD v3:
1:94063263 G / A
gnomAD v4:
chr1-94063263-G-A
Joint Max Group AF 0.00001746 (AFR)
Genomes Max Group AF 0.00001919 (AFR)
Exomes Max Group AF 0.00000531 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94063263G>A , CM000663.2:g.94063263G>A GRCh38
NC_000001.10:g.94528819G>A , CM000663.1:g.94528819G>A GRCh37
NC_000001.9:g.94301407G>A NCBI36
NG_009073.1:g.62887C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1609C>T MANE Select ENSP00000359245.3:p.Arg537Cys
ENST00000649773.1:c.1609C>T ENSP00000496882.1:p.Arg537Cys
ENST00000370225.3:c.1609C>T ENSP00000359245.3:p.Arg537Cys
NM_000350.2:c.1609C>T NP_000341.2:p.Arg537Cys
NM_000350.3:c.1609C>T MANE Select NP_000341.2:p.Arg537Cys
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