Canonical Allele Identifier: CA418826334
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1157387
ClinVar RCV Id: RCV001500406
dbSNP Id: rs1179486125
gnomAD v3: 1-94041344-G-A
gnomAD v4: 1-94041344-G-A
MyVariant Identifiers: chr1:g.94506900G>A (hg19) chr1:g.94041344G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041344G>A , CM000663.2:g.94041344G>A GRCh38
NC_000001.10:g.94506900G>A , CM000663.1:g.94506900G>A GRCh37
NC_000001.9:g.94279488G>A NCBI36
NG_009073.1:g.84806C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3387C>T MANE Select ENSP00000359245.3:p.Arg1129=
ENST00000370225.3:c.3387C>T ENSP00000359245.3:p.Arg1129=
ENST00000536513.5:c.-64-1255C>T ENSP00000439707.2:n.-64-1255C>T
NM_000350.2:c.3387C>T NP_000341.2:p.Arg1129=
NM_000350.3:c.3387C>T MANE Select NP_000341.2:p.Arg1129=
Search 100 bp 5'
Search 100 bp 3'