Canonical Allele Identifier: CA957692
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs751233838
ExAC: 1:94496616 A / C
gnomAD v2: 1-94496616-A-C
gnomAD v4: 1-94031060-A-C
COSMIC: COSM682658
MyVariant Identifiers: chr1:g.94496616A>C (hg19) chr1:g.94031060A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031060A>C , CM000663.2:g.94031060A>C GRCh38
NC_000001.10:g.94496616A>C , CM000663.1:g.94496616A>C GRCh37
NC_000001.9:g.94269204A>C NCBI36
NG_009073.1:g.95090T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4189T>G MANE Select ENSP00000359245.3:p.Phe1397Val
ENST00000370225.3:c.4189T>G ENSP00000359245.3:p.Phe1397Val
ENST00000536513.5:c.565T>G ENSP00000439707.2:p.Phe189Val
NM_000350.2:c.4189T>G NP_000341.2:p.Phe1397Val
NM_000350.3:c.4189T>G MANE Select NP_000341.2:p.Phe1397Val
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Search 100 bp 3'