Canonical Allele Identifier: CA26853281
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs976255683
gnomAD v3: 1-94029318-G-T
gnomAD v4: 1-94029318-G-T
MyVariant Identifiers: chr1:g.94494874G>T (hg19) chr1:g.94029318G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029318G>T , CM000663.2:g.94029318G>T GRCh38
NC_000001.10:g.94494874G>T , CM000663.1:g.94494874G>T GRCh37
NC_000001.9:g.94267462G>T NCBI36
NG_009073.1:g.96832C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4539+127C>A MANE Select ENSP00000359245.3:n.4539+127C>A
ENST00000370225.3:c.4539+127C>A ENSP00000359245.3:n.4539+127C>A
ENST00000536513.5:c.915+127C>A ENSP00000439707.2:n.915+127C>A
NM_000350.2:c.4539+127C>A NP_000341.2:n.4539+127C>A
NM_000350.3:c.4539+127C>A MANE Select NP_000341.2:n.4539+127C>A
Search 100 bp 5'
Search 100 bp 3'