Canonical Allele Identifier: CA958283
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs762335392
ExAC: 1:94522107 C / T
gnomAD v2: 1-94522107-C-T
gnomAD v3: 1-94056551-C-T
gnomAD v4: 1-94056551-C-T
MyVariant Identifiers: chr1:g.94522107C>T (hg19) chr1:g.94056551C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056551C>T , CM000663.2:g.94056551C>T GRCh38
NC_000001.10:g.94522107C>T , CM000663.1:g.94522107C>T GRCh37
NC_000001.9:g.94294695C>T NCBI36
NG_009073.1:g.69599G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2382+50G>A MANE Select ENSP00000359245.3:n.2382+50G>A
ENST00000649773.1:c.2161-1236G>A ENSP00000496882.1:n.2161-1236G>A
ENST00000370225.3:c.2382+50G>A ENSP00000359245.3:n.2382+50G>A
ENST00000536513.5:c.-65+6623G>A ENSP00000439707.2:n.-65+6623G>A
NM_000350.2:c.2382+50G>A NP_000341.2:n.2382+50G>A
NM_000350.3:c.2382+50G>A MANE Select NP_000341.2:n.2382+50G>A
Search 100 bp 5'
Search 100 bp 3'