Canonical Allele Identifier: CA26829153
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs988544419
gnomAD v2: 1-94463724-C-T
gnomAD v3: 1-93998168-C-T
gnomAD v4: 1-93998168-C-T
MyVariant Identifiers: chr1:g.94463724C>T (hg19) chr1:g.93998168C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93998168C>T , CM000663.2:g.93998168C>T GRCh38
NC_000001.10:g.94463724C>T , CM000663.1:g.94463724C>T GRCh37
NC_000001.9:g.94236312C>T NCBI36
NG_009073.1:g.127982G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6480-58G>A MANE Select ENSP00000359245.3:n.6480-58G>A
ENST00000370225.3:c.6480-58G>A ENSP00000359245.3:n.6480-58G>A
ENST00000536513.5:c.2856-58G>A ENSP00000439707.2:n.2856-58G>A
NM_000350.2:c.6480-58G>A NP_000341.2:n.6480-58G>A
NM_000350.3:c.6480-58G>A MANE Select NP_000341.2:n.6480-58G>A
Search 100 bp 5'
Search 100 bp 3'