Canonical Allele Identifier: CA341281077
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1065669
ClinVar RCV Id: RCV001376249 RCV002272462 RCV002550231
dbSNP Id: rs2101008373
gnomAD v4: 1-94011316-C-A
MyVariant Identifiers: chr1:g.94476872C>A (hg19) chr1:g.94011316C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011316C>A , CM000663.2:g.94011316C>A GRCh38
NC_000001.10:g.94476872C>A , CM000663.1:g.94476872C>A GRCh37
NC_000001.9:g.94249460C>A NCBI36
NG_009073.1:g.114834G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5530G>T MANE Select ENSP00000359245.3:p.Gly1844Cys
ENST00000370225.3:c.5530G>T ENSP00000359245.3:p.Gly1844Cys
ENST00000536513.5:c.1906G>T ENSP00000439707.2:p.Gly636Cys
NM_000350.2:c.5530G>T NP_000341.2:p.Gly1844Cys
NM_000350.3:c.5530G>T MANE Select NP_000341.2:p.Gly1844Cys
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