Canonical Allele Identifier: CA341284821
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 866714
ClinVar RCV Id: RCV001074951 RCV001862585
dbSNP Id: rs1660137001
gnomAD v4: 1-94029479-C-A
MyVariant Identifiers: chr1:g.94495035C>A (hg19) chr1:g.94029479C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029479C>A , CM000663.2:g.94029479C>A GRCh38
NC_000001.10:g.94495035C>A , CM000663.1:g.94495035C>A GRCh37
NC_000001.9:g.94267623C>A NCBI36
NG_009073.1:g.96671G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4505G>T MANE Select ENSP00000359245.3:p.Cys1502Phe
ENST00000370225.3:c.4505G>T ENSP00000359245.3:p.Cys1502Phe
ENST00000536513.5:c.881G>T ENSP00000439707.2:p.Cys294Phe
NM_000350.2:c.4505G>T NP_000341.2:p.Cys1502Phe
NM_000350.3:c.4505G>T MANE Select NP_000341.2:p.Cys1502Phe
Search 100 bp 5'
Search 100 bp 3'