Canonical Allele Identifier: CA226978
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99117
ClinVar RCV Id: RCV000085461 RCV001074306
dbSNP Id: rs61749425
gnomAD v2: 1-94526154-C-T
gnomAD v4: 1-94060598-C-T
COSMIC: COSM5798094 COSM5798095
MyVariant Identifiers: chr1:g.94526154C>T (hg19) chr1:g.94060598C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060598C>T , CM000663.2:g.94060598C>T GRCh38
NC_000001.10:g.94526154C>T , CM000663.1:g.94526154C>T GRCh37
NC_000001.9:g.94298742C>T NCBI36
NG_009073.1:g.65552G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2099G>A MANE Select ENSP00000359245.3:p.Trp700Ter
ENST00000649773.1:c.2099G>A ENSP00000496882.1:p.Trp700Ter
ENST00000370225.3:c.2099G>A ENSP00000359245.3:p.Trp700Ter
ENST00000472033.1:n.219G>A
ENST00000536513.5:c.-65+2576G>A ENSP00000439707.2:n.-65+2576G>A
NM_000350.2:c.2099G>A NP_000341.2:p.Trp700Ter
NM_000350.3:c.2099G>A MANE Select NP_000341.2:p.Trp700Ter
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