Canonical Allele Identifier: CA341279927
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1511031
ClinVar RCV Id: RCV002014300
dbSNP Id: rs2101004195
MyVariant Identifiers: chr1:g.94473826C>T (hg19) chr1:g.94008270C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008270C>T , CM000663.2:g.94008270C>T GRCh38
NC_000001.10:g.94473826C>T , CM000663.1:g.94473826C>T GRCh37
NC_000001.9:g.94246414C>T NCBI36
NG_009073.1:g.117880G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5863G>A MANE Select ENSP00000359245.3:p.Val1955Met
ENST00000370225.3:c.5863G>A ENSP00000359245.3:p.Val1955Met
ENST00000465352.1:n.279G>A
ENST00000536513.5:c.2239G>A ENSP00000439707.2:p.Val747Met
NM_000350.2:c.5863G>A NP_000341.2:p.Val1955Met
NM_000350.3:c.5863G>A MANE Select NP_000341.2:p.Val1955Met
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Search 100 bp 3'