Canonical Allele Identifier: CA10611704
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 298231
ClinVar RCV Id: RCV000283357 RCV000289750 RCV000342279 RCV000393464 RCV001101749 RCV001812786
dbSNP Id: rs886046563
gnomAD v2: 1-94486869-G-A
gnomAD v3: 1-94021313-G-A
gnomAD v4: 1-94021313-G-A
MyVariant Identifiers: chr1:g.94486869G>A (hg19) chr1:g.94021313G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021313G>A , CM000663.2:g.94021313G>A GRCh38
NC_000001.10:g.94486869G>A , CM000663.1:g.94486869G>A GRCh37
NC_000001.9:g.94259457G>A NCBI36
NG_009073.1:g.104837C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4945C>T MANE Select ENSP00000359245.3:p.Pro1649Ser
ENST00000370225.3:c.4945C>T ENSP00000359245.3:p.Pro1649Ser
ENST00000460514.1:n.439C>T
ENST00000470771.1:n.55C>T
ENST00000536513.5:c.1321C>T ENSP00000439707.2:p.Pro441Ser
NM_000350.2:c.4945C>T NP_000341.2:p.Pro1649Ser
NM_000350.3:c.4945C>T MANE Select NP_000341.2:p.Pro1649Ser
Search 100 bp 5'
Search 100 bp 3'