Canonical Allele Identifier: CA341279518
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1382097
ClinVar RCV Id: RCV001897406
dbSNP Id: rs2101078303
MyVariant Identifiers: chr1:g.94528232T>A (hg19) chr1:g.94062676T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062676T>A , CM000663.2:g.94062676T>A GRCh38
NC_000001.10:g.94528232T>A , CM000663.1:g.94528232T>A GRCh37
NC_000001.9:g.94300820T>A NCBI36
NG_009073.1:g.63474A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1838A>T MANE Select ENSP00000359245.3:p.Asp613Val
ENST00000649773.1:c.1838A>T ENSP00000496882.1:p.Asp613Val
ENST00000370225.3:c.1838A>T ENSP00000359245.3:p.Asp613Val
ENST00000536513.5:c.-65+498A>T ENSP00000439707.2:n.-65+498A>T
NM_000350.2:c.1838A>T NP_000341.2:p.Asp613Val
NM_000350.3:c.1838A>T MANE Select NP_000341.2:p.Asp613Val
Search 100 bp 5'
Search 100 bp 3'