Canonical Allele Identifier: CA227199
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99289
ClinVar RCV Id: RCV000085642
dbSNP Id: rs61750149
gnomAD v2: 1-94495034-G-T
gnomAD v4: 1-94029478-G-T
MyVariant Identifiers: chr1:g.94495034G>T (hg19) chr1:g.94029478G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029478G>T , CM000663.2:g.94029478G>T GRCh38
NC_000001.10:g.94495034G>T , CM000663.1:g.94495034G>T GRCh37
NC_000001.9:g.94267622G>T NCBI36
NG_009073.1:g.96672C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4506C>A MANE Select ENSP00000359245.3:p.Cys1502Ter
ENST00000370225.3:c.4506C>A ENSP00000359245.3:p.Cys1502Ter
ENST00000536513.5:c.882C>A ENSP00000439707.2:p.Cys294Ter
NM_000350.2:c.4506C>A NP_000341.2:p.Cys1502Ter
NM_000350.3:c.4506C>A MANE Select NP_000341.2:p.Cys1502Ter
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