Canonical Allele Identifier: CA26853493
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2109413
ClinVar RCV Id: RCV003038344
dbSNP Id: rs1038083678
MyVariant Identifiers: chr1:g.94495042G>A (hg19) chr1:g.94029486G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029486G>A , CM000663.2:g.94029486G>A GRCh38
NC_000001.10:g.94495042G>A , CM000663.1:g.94495042G>A GRCh37
NC_000001.9:g.94267630G>A NCBI36
NG_009073.1:g.96664C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4498C>T MANE Select ENSP00000359245.3:p.Pro1500Ser
ENST00000370225.3:c.4498C>T ENSP00000359245.3:p.Pro1500Ser
ENST00000536513.5:c.874C>T ENSP00000439707.2:p.Pro292Ser
NM_000350.2:c.4498C>T NP_000341.2:p.Pro1500Ser
NM_000350.3:c.4498C>T MANE Select NP_000341.2:p.Pro1500Ser
Search 100 bp 5'
Search 100 bp 3'