Canonical Allele Identifier: CA958143
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94047009C>A
GRCh37 chr1:g.94512565C>A
Revel Score:
ENST00000370225 (MANE Select) 0.539
ENST00000535735 0.539
ClinVar RCV:
RCV001323880
RCV002499633
ClinVar Variation:
1023776
dbSNP:
1801581
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047009C>A , CM000663.2:g.94047009C>A GRCh38
NC_000001.10:g.94512565C>A , CM000663.1:g.94512565C>A GRCh37
NC_000001.9:g.94285153C>A NCBI36
NG_009073.1:g.79141G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2828G>T MANE Select ENSP00000359245.3:p.Arg943Leu
ENST00000649773.1:c.2606G>T ENSP00000496882.1:p.Arg869Leu
ENST00000370225.3:c.2828G>T ENSP00000359245.3:p.Arg943Leu
ENST00000536513.5:c.-64-6920G>T ENSP00000439707.2:n.-64-6920G>T
NM_000350.2:c.2828G>T NP_000341.2:p.Arg943Leu
NM_000350.3:c.2828G>T MANE Select NP_000341.2:p.Arg943Leu
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