Canonical Allele Identifier: CA958128
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs772463435
ExAC: 1:94512515 C / T
gnomAD v2: 1-94512515-C-T
gnomAD v3: 1-94046959-C-T
gnomAD v4: 1-94046959-C-T
MyVariant Identifiers: chr1:g.94512515C>T (hg19) chr1:g.94046959C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046959C>T , CM000663.2:g.94046959C>T GRCh38
NC_000001.10:g.94512515C>T , CM000663.1:g.94512515C>T GRCh37
NC_000001.9:g.94285103C>T NCBI36
NG_009073.1:g.79191G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2878G>A MANE Select ENSP00000359245.3:p.Ala960Thr
ENST00000649773.1:c.2656G>A ENSP00000496882.1:p.Ala886Thr
ENST00000370225.3:c.2878G>A ENSP00000359245.3:p.Ala960Thr
ENST00000536513.5:c.-64-6870G>A ENSP00000439707.2:n.-64-6870G>A
NM_000350.2:c.2878G>A NP_000341.2:p.Ala960Thr
NM_000350.3:c.2878G>A MANE Select NP_000341.2:p.Ala960Thr
Search 100 bp 5'
Search 100 bp 3'