Canonical Allele Identifier: CA226980
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99118
ClinVar RCV Id: RCV000085462 RCV004529884
dbSNP Id: rs61754025
ExAC: 1:94526126 C / T
gnomAD v2: 1-94526126-C-T
gnomAD v3: 1-94060570-C-T
gnomAD v4: 1-94060570-C-T
COSMIC: COSM913458 COSM4865682
MyVariant Identifiers: chr1:g.94526126C>T (hg19) chr1:g.94060570C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060570C>T , CM000663.2:g.94060570C>T GRCh38
NC_000001.10:g.94526126C>T , CM000663.1:g.94526126C>T GRCh37
NC_000001.9:g.94298714C>T NCBI36
NG_009073.1:g.65580G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2127G>A MANE Select ENSP00000359245.3:p.Ser709=
ENST00000649773.1:c.2127G>A ENSP00000496882.1:p.Ser709=
ENST00000370225.3:c.2127G>A ENSP00000359245.3:p.Ser709=
ENST00000472033.1:n.247G>A
ENST00000536513.5:c.-65+2604G>A ENSP00000439707.2:n.-65+2604G>A
NM_000350.2:c.2127G>A NP_000341.2:p.Ser709=
NM_000350.3:c.2127G>A MANE Select NP_000341.2:p.Ser709=
Search 100 bp 5'
Search 100 bp 3'