Canonical Allele Identifier: CA957988
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 69298
ClinVar RCV Id: RCV001208554
dbSNP Id: rs138641544
ExAC: 1:94508341 C / T
gnomAD v2: 1-94508341-C-T
gnomAD v3: 1-94042785-C-T
gnomAD v4: 1-94042785-C-T
COSMIC: COSM109399
MyVariant Identifiers: chr1:g.94508341C>T (hg19) chr1:g.94042785C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94042785C>T , CM000663.2:g.94042785C>T GRCh38
NC_000001.10:g.94508341C>T , CM000663.1:g.94508341C>T GRCh37
NC_000001.9:g.94280929C>T NCBI36
NG_009073.1:g.83365G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3304G>A MANE Select ENSP00000359245.3:p.Asp1102Asn
ENST00000370225.3:c.3304G>A ENSP00000359245.3:p.Asp1102Asn
ENST00000536513.5:c.-64-2696G>A ENSP00000439707.2:n.-64-2696G>A
NM_000350.2:c.3304G>A NP_000341.2:p.Asp1102Asn
NM_000350.3:c.3304G>A MANE Select NP_000341.2:p.Asp1102Asn
Search 100 bp 5'
Search 100 bp 3'