Canonical Allele Identifier: CA957409
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs756194251
ExAC: 1:94486797 C / T
gnomAD v2: 1-94486797-C-T
gnomAD v4: 1-94021241-C-T
MyVariant Identifiers: chr1:g.94486797C>T (hg19) chr1:g.94021241C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021241C>T , CM000663.2:g.94021241C>T GRCh38
NC_000001.10:g.94486797C>T , CM000663.1:g.94486797C>T GRCh37
NC_000001.9:g.94259385C>T NCBI36
NG_009073.1:g.104909G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5017G>A MANE Select ENSP00000359245.3:p.Val1673Met
ENST00000370225.3:c.5017G>A ENSP00000359245.3:p.Val1673Met
ENST00000460514.1:n.511G>A
ENST00000470771.1:n.127G>A
ENST00000536513.5:c.1393G>A ENSP00000439707.2:p.Val465Met
NM_000350.2:c.5017G>A NP_000341.2:p.Val1673Met
NM_000350.3:c.5017G>A MANE Select NP_000341.2:p.Val1673Met
Search 100 bp 5'
Search 100 bp 3'