Canonical Allele Identifier: CA957697
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs758424704
ExAC: 1:94496652 A / C
gnomAD v2: 1-94496652-A-C
gnomAD v4: 1-94031096-A-C
MyVariant Identifiers: chr1:g.94496652A>C (hg19) chr1:g.94031096A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031096A>C , CM000663.2:g.94031096A>C GRCh38
NC_000001.10:g.94496652A>C , CM000663.1:g.94496652A>C GRCh37
NC_000001.9:g.94269240A>C NCBI36
NG_009073.1:g.95054T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4153T>G MANE Select ENSP00000359245.3:p.Phe1385Val
ENST00000370225.3:c.4153T>G ENSP00000359245.3:p.Phe1385Val
ENST00000536513.5:c.529T>G ENSP00000439707.2:p.Phe177Val
NM_000350.2:c.4153T>G NP_000341.2:p.Phe1385Val
NM_000350.3:c.4153T>G MANE Select NP_000341.2:p.Phe1385Val
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