Canonical Allele Identifier: CA524383310
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1480837716
gnomAD v2: 1-94476979-A-G
gnomAD v4: 1-94011423-A-G
MyVariant Identifiers: chr1:g.94476979A>G (hg19) chr1:g.94011423A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011423A>G , CM000663.2:g.94011423A>G GRCh38
NC_000001.10:g.94476979A>G , CM000663.1:g.94476979A>G GRCh37
NC_000001.9:g.94249567A>G NCBI36
NG_009073.1:g.114727T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5461-38T>C MANE Select ENSP00000359245.3:n.5461-38T>C
ENST00000370225.3:c.5461-38T>C ENSP00000359245.3:n.5461-38T>C
ENST00000536513.5:c.1837-38T>C ENSP00000439707.2:n.1837-38T>C
NM_000350.2:c.5461-38T>C NP_000341.2:n.5461-38T>C
NM_000350.3:c.5461-38T>C MANE Select NP_000341.2:n.5461-38T>C
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