Canonical Allele Identifier: CA418822191
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2863624
ClinVar RCV Id: RCV003702370
MyVariant Identifiers: chr1:g.94528276C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062720C>T , CM000663.2:g.94062720C>T GRCh38
NC_000001.10:g.94528276C>T , CM000663.1:g.94528276C>T GRCh37
NC_000001.9:g.94300864C>T NCBI36
NG_009073.1:g.63430G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1794G>A MANE Select ENSP00000359245.3:p.Val598=
ENST00000649773.1:c.1794G>A ENSP00000496882.1:p.Val598=
ENST00000370225.3:c.1794G>A ENSP00000359245.3:p.Val598=
ENST00000536513.5:c.-65+454G>A ENSP00000439707.2:n.-65+454G>A
NM_000350.2:c.1794G>A NP_000341.2:p.Val598=
NM_000350.3:c.1794G>A MANE Select NP_000341.2:p.Val598=
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Search 100 bp 3'