Canonical Allele Identifier: CA341278202
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 958944
ClinVar RCV Id: RCV001232207
dbSNP Id: rs1659195030
MyVariant Identifiers: chr1:g.94467451G>A (hg19) chr1:g.94001895G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001895G>A , CM000663.2:g.94001895G>A GRCh38
NC_000001.10:g.94467451G>A , CM000663.1:g.94467451G>A GRCh37
NC_000001.9:g.94240039G>A NCBI36
NG_009073.1:g.124255C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6245C>T MANE Select ENSP00000359245.3:p.Ala2082Val
ENST00000370225.3:c.6245C>T ENSP00000359245.3:p.Ala2082Val
ENST00000465352.1:n.661C>T
ENST00000536513.5:c.2621C>T ENSP00000439707.2:p.Ala874Val
NM_000350.2:c.6245C>T NP_000341.2:p.Ala2082Val
NM_000350.3:c.6245C>T MANE Select NP_000341.2:p.Ala2082Val
Search 100 bp 5'
Search 100 bp 3'