Canonical Allele Identifier: CA418816900
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1922586
ClinVar RCV Id: RCV002617604
dbSNP Id: rs1162641655
gnomAD v2: 1-94476873-C-T
gnomAD v4: 1-94011317-C-T
MyVariant Identifiers: chr1:g.94476873C>T (hg19) chr1:g.94011317C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011317C>T , CM000663.2:g.94011317C>T GRCh38
NC_000001.10:g.94476873C>T , CM000663.1:g.94476873C>T GRCh37
NC_000001.9:g.94249461C>T NCBI36
NG_009073.1:g.114833G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5529G>A MANE Select ENSP00000359245.3:p.Arg1843=
ENST00000370225.3:c.5529G>A ENSP00000359245.3:p.Arg1843=
ENST00000536513.5:c.1905G>A ENSP00000439707.2:p.Arg635=
NM_000350.2:c.5529G>A NP_000341.2:p.Arg1843=
NM_000350.3:c.5529G>A MANE Select NP_000341.2:p.Arg1843=
Search 100 bp 5'
Search 100 bp 3'