Canonical Allele Identifier: CA418812250
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 713557
ClinVar RCV Id: RCV000885717
dbSNP Id: rs1570378218
MyVariant Identifiers: chr1:g.94512612A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047056A>G , CM000663.2:g.94047056A>G GRCh38
NC_000001.10:g.94512612A>G , CM000663.1:g.94512612A>G GRCh37
NC_000001.9:g.94285200A>G NCBI36
NG_009073.1:g.79094T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2781T>C MANE Select ENSP00000359245.3:p.Pro927=
ENST00000649773.1:c.2559T>C ENSP00000496882.1:p.Pro853=
ENST00000370225.3:c.2781T>C ENSP00000359245.3:p.Pro927=
ENST00000536513.5:c.-64-6967T>C ENSP00000439707.2:n.-64-6967T>C
NM_000350.2:c.2781T>C NP_000341.2:p.Pro927=
NM_000350.3:c.2781T>C MANE Select NP_000341.2:p.Pro927=
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