Canonical Allele Identifier: CA958899
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1080363
ClinVar RCV Id: RCV001395967
dbSNP Id: rs756647171
ExAC: 1:94577116 C / T
gnomAD v2: 1-94577116-C-T
gnomAD v3: 1-94111560-C-T
gnomAD v4: 1-94111560-C-T
COSMIC: COSM426863 COSM4815604
MyVariant Identifiers: chr1:g.94577116C>T (hg19) chr1:g.94111560C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111560C>T , CM000663.2:g.94111560C>T GRCh38
NC_000001.10:g.94577116C>T , CM000663.1:g.94577116C>T GRCh37
NC_000001.9:g.94349704C>T NCBI36
NG_009073.1:g.14590G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.180G>A MANE Select ENSP00000359245.3:p.Ala60=
ENST00000649773.1:c.180G>A ENSP00000496882.1:p.Ala60=
ENST00000370225.3:c.180G>A ENSP00000359245.3:p.Ala60=
NM_000350.2:c.180G>A NP_000341.2:p.Ala60=
NM_000350.3:c.180G>A MANE Select NP_000341.2:p.Ala60=
Search 100 bp 5'
Search 100 bp 3'