Canonical Allele Identifier: CA418817852
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3000049
ClinVar RCV Id: RCV003857224
dbSNP Id: rs1329081501
gnomAD v2: 1-94522160-A-G
gnomAD v4: 1-94056604-A-G
MyVariant Identifiers: chr1:g.94522160A>G (hg19) chr1:g.94056604A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056604A>G , CM000663.2:g.94056604A>G GRCh38
NC_000001.10:g.94522160A>G , CM000663.1:g.94522160A>G GRCh37
NC_000001.9:g.94294748A>G NCBI36
NG_009073.1:g.69546T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2379T>C MANE Select ENSP00000359245.3:p.Ala793=
ENST00000649773.1:c.2161-1289T>C ENSP00000496882.1:n.2161-1289T>C
ENST00000370225.3:c.2379T>C ENSP00000359245.3:p.Ala793=
ENST00000536513.5:c.-65+6570T>C ENSP00000439707.2:n.-65+6570T>C
NM_000350.2:c.2379T>C NP_000341.2:p.Ala793=
NM_000350.3:c.2379T>C MANE Select NP_000341.2:p.Ala793=
Search 100 bp 5'
Search 100 bp 3'