Canonical Allele Identifier: CA956998
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs774264864
ExAC: 1:94467539 A / G
gnomAD v2: 1-94467539-A-G
gnomAD v3: 1-94001983-A-G
gnomAD v4: 1-94001983-A-G
MyVariant Identifiers: chr1:g.94467539A>G (hg19) chr1:g.94001983A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001983A>G , CM000663.2:g.94001983A>G GRCh38
NC_000001.10:g.94467539A>G , CM000663.1:g.94467539A>G GRCh37
NC_000001.9:g.94240127A>G NCBI36
NG_009073.1:g.124167T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6157T>C MANE Select ENSP00000359245.3:p.Trp2053Arg
ENST00000370225.3:c.6157T>C ENSP00000359245.3:p.Trp2053Arg
ENST00000465352.1:n.573T>C
ENST00000536513.5:c.2533T>C ENSP00000439707.2:p.Trp845Arg
NM_000350.2:c.6157T>C NP_000341.2:p.Trp2053Arg
NM_000350.3:c.6157T>C MANE Select NP_000341.2:p.Trp2053Arg
Search 100 bp 5'
Search 100 bp 3'