Canonical Allele Identifier: CA341291230
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94041370-C-T
MyVariant Identifiers: chr1:g.94506926C>T (hg19) chr1:g.94041370C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041370C>T , CM000663.2:g.94041370C>T GRCh38
NC_000001.10:g.94506926C>T , CM000663.1:g.94506926C>T GRCh37
NC_000001.9:g.94279514C>T NCBI36
NG_009073.1:g.84780G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3361G>A MANE Select ENSP00000359245.3:p.Asp1121Asn
ENST00000370225.3:c.3361G>A ENSP00000359245.3:p.Asp1121Asn
ENST00000536513.5:c.-64-1281G>A ENSP00000439707.2:n.-64-1281G>A
NM_000350.2:c.3361G>A NP_000341.2:p.Asp1121Asn
NM_000350.3:c.3361G>A MANE Select NP_000341.2:p.Asp1121Asn
Search 100 bp 5'
Search 100 bp 3'