Canonical Allele Identifier: CA418821825
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2768891
ClinVar RCV Id: RCV003576602
dbSNP Id: rs1261408338
gnomAD v4: 1-94021679-A-G
MyVariant Identifiers: chr1:g.94487235A>G (hg19) chr1:g.94021679A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021679A>G , CM000663.2:g.94021679A>G GRCh38
NC_000001.10:g.94487235A>G , CM000663.1:g.94487235A>G GRCh37
NC_000001.9:g.94259823A>G NCBI36
NG_009073.1:g.104471T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4809T>C MANE Select ENSP00000359245.3:p.Pro1603=
ENST00000370225.3:c.4809T>C ENSP00000359245.3:p.Pro1603=
ENST00000460514.1:n.303T>C
ENST00000536513.5:c.1185T>C ENSP00000439707.2:p.Pro395=
NM_000350.2:c.4809T>C NP_000341.2:p.Pro1603=
NM_000350.3:c.4809T>C MANE Select NP_000341.2:p.Pro1603=
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