Canonical Allele Identifier: CA341283088
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1500814
ClinVar RCV Id: RCV002042661
dbSNP Id: rs1261008142
MyVariant Identifiers: chr1:g.94486893C>T (hg19) chr1:g.94021337C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021337C>T , CM000663.2:g.94021337C>T GRCh38
NC_000001.10:g.94486893C>T , CM000663.1:g.94486893C>T GRCh37
NC_000001.9:g.94259481C>T NCBI36
NG_009073.1:g.104813G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4921G>A MANE Select ENSP00000359245.3:p.Ala1641Thr
ENST00000370225.3:c.4921G>A ENSP00000359245.3:p.Ala1641Thr
ENST00000460514.1:n.415G>A
ENST00000470771.1:n.31G>A
ENST00000536513.5:c.1297G>A ENSP00000439707.2:p.Ala433Thr
NM_000350.2:c.4921G>A NP_000341.2:p.Ala1641Thr
NM_000350.3:c.4921G>A MANE Select NP_000341.2:p.Ala1641Thr
Search 100 bp 5'
Search 100 bp 3'