Canonical Allele Identifier: CA227270
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94019713A>G
GRCh37 chr1:g.94485269A>G
Revel Score:
ENST00000546054 0.605
ENST00000370225 (MANE Select) 0.605
gnomAD v2:
1:94485269 A / G
gnomAD v4:
chr1-94019713-A-G
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
ClinVar RCV:
RCV000085695
RCV000408570
ClinVar Variation:
99342
dbSNP:
61753020
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94019713A>G , CM000663.2:g.94019713A>G GRCh38
NC_000001.10:g.94485269A>G , CM000663.1:g.94485269A>G GRCh37
NC_000001.9:g.94257857A>G NCBI36
NG_009073.1:g.106437T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5065T>C MANE Select ENSP00000359245.3:p.Ser1689Pro
ENST00000370225.3:c.5065T>C ENSP00000359245.3:p.Ser1689Pro
ENST00000460514.1:n.559T>C
ENST00000470771.1:n.175T>C
ENST00000536513.5:c.1441T>C ENSP00000439707.2:p.Ser481Pro
NM_000350.2:c.5065T>C NP_000341.2:p.Ser1689Pro
NM_000350.3:c.5065T>C MANE Select NP_000341.2:p.Ser1689Pro
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