Canonical Allele Identifier: CA10602405
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.93997943G>A
GRCh37 chr1:g.94463499G>A
Revel Score:
ENST00000546054 0.736
ENST00000370225 (MANE Select) 0.736
ENST00000536513 0.736
ENST00000535881 0.736
gnomAD v2:
1:94463499 G / A
gnomAD v3:
1:93997943 G / A
gnomAD v4:
chr1-93997943-G-A
Joint Max Group AF 0.00001803 (NFE)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.0000183 (NFE)
ClinVar RCV:
RCV000408559
RCV001378637
ClinVar Variation:
236149
dbSNP:
886044763
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997943G>A , CM000663.2:g.93997943G>A GRCh38
NC_000001.10:g.94463499G>A , CM000663.1:g.94463499G>A GRCh37
NC_000001.9:g.94236087G>A NCBI36
NG_009073.1:g.128207C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6647C>T MANE Select ENSP00000359245.3:p.Ala2216Val
ENST00000370225.3:c.6647C>T ENSP00000359245.3:p.Ala2216Val
ENST00000536513.5:c.3023C>T ENSP00000439707.2:p.Ala1008Val
NM_000350.2:c.6647C>T NP_000341.2:p.Ala2216Val
NM_000350.3:c.6647C>T MANE Select NP_000341.2:p.Ala2216Val
Search 100 bp 5'
Search 100 bp 3'