Canonical Allele Identifier: CA341284769
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1044276
ClinVar RCV Id: RCV001348500
dbSNP Id: rs759373898
gnomAD v3: 1-94029447-G-T
gnomAD v4: 1-94029447-G-T
MyVariant Identifiers: chr1:g.94495003G>T (hg19) chr1:g.94029447G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029447G>T , CM000663.2:g.94029447G>T GRCh38
NC_000001.10:g.94495003G>T , CM000663.1:g.94495003G>T GRCh37
NC_000001.9:g.94267591G>T NCBI36
NG_009073.1:g.96703C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4537C>A MANE Select ENSP00000359245.3:p.Gln1513Lys
ENST00000370225.3:c.4537C>A ENSP00000359245.3:p.Gln1513Lys
ENST00000536513.5:c.913C>A ENSP00000439707.2:p.Gln305Lys
NM_000350.2:c.4537C>A NP_000341.2:p.Gln1513Lys
NM_000350.3:c.4537C>A MANE Select NP_000341.2:p.Gln1513Lys
Search 100 bp 5'
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