Canonical Allele Identifier: CA957989
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 866434
ClinVar RCV Id: RCV001074446 RCV002557911
dbSNP Id: rs373868915
ExAC: 1:94508343 C / T
gnomAD v2: 1-94508343-C-T
MyVariant Identifiers: chr1:g.94508343C>T (hg19) chr1:g.94042787C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94042787C>T , CM000663.2:g.94042787C>T GRCh38
NC_000001.10:g.94508343C>T , CM000663.1:g.94508343C>T GRCh37
NC_000001.9:g.94280931C>T NCBI36
NG_009073.1:g.83363G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3302G>A MANE Select ENSP00000359245.3:p.Trp1101Ter
ENST00000370225.3:c.3302G>A ENSP00000359245.3:p.Trp1101Ter
ENST00000536513.5:c.-64-2698G>A ENSP00000439707.2:n.-64-2698G>A
NM_000350.2:c.3302G>A NP_000341.2:p.Trp1101Ter
NM_000350.3:c.3302G>A MANE Select NP_000341.2:p.Trp1101Ter
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