Canonical Allele Identifier: CA233403
Gene: ABCA4 HGNC NCBI
COSMIC:
COSM3751461 (not active)
MyVariant.info:
GRCh38 chr1:g.94021848C>T
GRCh37 chr1:g.94487404C>T
Revel Score:
ENST00000546054 0.629
ENST00000370225 (MANE Select) 0.629
gnomAD v2:
1:94487404 C / T
gnomAD v3:
1:94021848 C / T
gnomAD v4:
chr1-94021848-C-T
Joint Max Group AF 0.00272548 (NFE)
Genomes Max Group AF 0.00358008 (NFE)
Exomes Max Group AF 0.00265321 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021848C>T , CM000663.2:g.94021848C>T GRCh38
NC_000001.10:g.94487404C>T , CM000663.1:g.94487404C>T GRCh37
NC_000001.9:g.94259992C>T NCBI36
NG_009073.1:g.104302G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4771G>A MANE Select ENSP00000359245.3:p.Gly1591Arg
ENST00000370225.3:c.4771G>A ENSP00000359245.3:p.Gly1591Arg
ENST00000460514.1:n.265G>A
ENST00000536513.5:c.1147G>A ENSP00000439707.2:p.Gly383Arg
NM_000350.2:c.4771G>A NP_000341.2:p.Gly1591Arg
NM_000350.3:c.4771G>A MANE Select NP_000341.2:p.Gly1591Arg
Search 100 bp 5'
Search 100 bp 3'