Canonical Allele Identifier: CA418825191
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs776180321
gnomAD v4: 1-94031781-C-G
MyVariant Identifiers: chr1:g.94497337C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031781C>G , CM000663.2:g.94031781C>G GRCh38
NC_000001.10:g.94497337C>G , CM000663.1:g.94497337C>G GRCh37
NC_000001.9:g.94269925C>G NCBI36
NG_009073.1:g.94369G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4125G>C MANE Select ENSP00000359245.3:p.Ala1375=
ENST00000370225.3:c.4125G>C ENSP00000359245.3:p.Ala1375=
ENST00000536513.5:c.501G>C ENSP00000439707.2:p.Ala167=
NM_000350.2:c.4125G>C NP_000341.2:p.Ala1375=
NM_000350.3:c.4125G>C MANE Select NP_000341.2:p.Ala1375=
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Search 100 bp 3'