Canonical Allele Identifier: CA418821876
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1370704703
gnomAD v2: 1-94487408-C-G
gnomAD v4: 1-94021852-C-G
COSMIC: COSM4848478
MyVariant Identifiers: chr1:g.94487408C>G (hg19) chr1:g.94021852C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021852C>G , CM000663.2:g.94021852C>G GRCh38
NC_000001.10:g.94487408C>G , CM000663.1:g.94487408C>G GRCh37
NC_000001.9:g.94259996C>G NCBI36
NG_009073.1:g.104298G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4767G>C MANE Select ENSP00000359245.3:p.Val1589=
ENST00000370225.3:c.4767G>C ENSP00000359245.3:p.Val1589=
ENST00000460514.1:n.261G>C
ENST00000536513.5:c.1143G>C ENSP00000439707.2:p.Val381=
NM_000350.2:c.4767G>C NP_000341.2:p.Val1589=
NM_000350.3:c.4767G>C MANE Select NP_000341.2:p.Val1589=
Search 100 bp 5'
Search 100 bp 3'