Canonical Allele Identifier: CA341281074
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1303027
ClinVar RCV Id: RCV001756526 RCV003401670
dbSNP Id: rs1659540498
gnomAD v4: 1-94011315-C-T
MyVariant Identifiers: chr1:g.94476871C>T (hg19) chr1:g.94011315C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011315C>T , CM000663.2:g.94011315C>T GRCh38
NC_000001.10:g.94476871C>T , CM000663.1:g.94476871C>T GRCh37
NC_000001.9:g.94249459C>T NCBI36
NG_009073.1:g.114835G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5531G>A MANE Select ENSP00000359245.3:p.Gly1844Asp
ENST00000370225.3:c.5531G>A ENSP00000359245.3:p.Gly1844Asp
ENST00000536513.5:c.1907G>A ENSP00000439707.2:p.Gly636Asp
NM_000350.2:c.5531G>A NP_000341.2:p.Gly1844Asp
NM_000350.3:c.5531G>A MANE Select NP_000341.2:p.Gly1844Asp
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