Canonical Allele Identifier: CA341292394
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1395215
ClinVar RCV Id: RCV001884995
dbSNP Id: rs2101051331
MyVariant Identifiers: chr1:g.94508892C>T (hg19) chr1:g.94043336C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043336C>T , CM000663.2:g.94043336C>T GRCh38
NC_000001.10:g.94508892C>T , CM000663.1:g.94508892C>T GRCh37
NC_000001.9:g.94281480C>T NCBI36
NG_009073.1:g.82814G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3190G>A MANE Select ENSP00000359245.3:p.Gly1064Ser
ENST00000370225.3:c.3190G>A ENSP00000359245.3:p.Gly1064Ser
ENST00000536513.5:c.-64-3247G>A ENSP00000439707.2:n.-64-3247G>A
NM_000350.2:c.3190G>A NP_000341.2:p.Gly1064Ser
NM_000350.3:c.3190G>A MANE Select NP_000341.2:p.Gly1064Ser
Search 100 bp 5'
Search 100 bp 3'