Canonical Allele Identifier: CA341284774
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1963726
ClinVar RCV Id: RCV002716113
dbSNP Id: rs1316934987
gnomAD v2: 1-94495009-G-A
gnomAD v4: 1-94029453-G-A
MyVariant Identifiers: chr1:g.94495009G>A (hg19) chr1:g.94029453G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029453G>A , CM000663.2:g.94029453G>A GRCh38
NC_000001.10:g.94495009G>A , CM000663.1:g.94495009G>A GRCh37
NC_000001.9:g.94267597G>A NCBI36
NG_009073.1:g.96697C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4531C>T MANE Select ENSP00000359245.3:p.Pro1511Ser
ENST00000370225.3:c.4531C>T ENSP00000359245.3:p.Pro1511Ser
ENST00000536513.5:c.907C>T ENSP00000439707.2:p.Pro303Ser
NM_000350.2:c.4531C>T NP_000341.2:p.Pro1511Ser
NM_000350.3:c.4531C>T MANE Select NP_000341.2:p.Pro1511Ser
Search 100 bp 5'
Search 100 bp 3'