Canonical Allele Identifier: CA418812433
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs761879757
gnomAD v2: 1-94467540-G-A
gnomAD v4: 1-94001984-G-A
MyVariant Identifiers: chr1:g.94467540G>A (hg19) chr1:g.94001984G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001984G>A , CM000663.2:g.94001984G>A GRCh38
NC_000001.10:g.94467540G>A , CM000663.1:g.94467540G>A GRCh37
NC_000001.9:g.94240128G>A NCBI36
NG_009073.1:g.124166C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6156C>T MANE Select ENSP00000359245.3:p.Asn2052=
ENST00000370225.3:c.6156C>T ENSP00000359245.3:p.Asn2052=
ENST00000465352.1:n.572C>T
ENST00000536513.5:c.2532C>T ENSP00000439707.2:p.Asn844=
NM_000350.2:c.6156C>T NP_000341.2:p.Asn2052=
NM_000350.3:c.6156C>T MANE Select NP_000341.2:p.Asn2052=
Search 100 bp 5'
Search 100 bp 3'