Canonical Allele Identifier: CA227050
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99173
ClinVar RCV Id: RCV000085522 RCV000999861 RCV002225080
dbSNP Id: rs61749450
gnomAD v2: 1-94512481-G-T
gnomAD v4: 1-94046925-G-T
MyVariant Identifiers: chr1:g.94512481G>T (hg19) chr1:g.94046925G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046925G>T , CM000663.2:g.94046925G>T GRCh38
NC_000001.10:g.94512481G>T , CM000663.1:g.94512481G>T GRCh37
NC_000001.9:g.94285069G>T NCBI36
NG_009073.1:g.79225C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2912C>A MANE Select ENSP00000359245.3:p.Thr971Asn
ENST00000649773.1:c.2690C>A ENSP00000496882.1:p.Thr897Asn
ENST00000370225.3:c.2912C>A ENSP00000359245.3:p.Thr971Asn
ENST00000536513.5:c.-64-6836C>A ENSP00000439707.2:n.-64-6836C>A
NM_000350.2:c.2912C>A NP_000341.2:p.Thr971Asn
NM_000350.3:c.2912C>A MANE Select NP_000341.2:p.Thr971Asn
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