Canonical Allele Identifier: CA31360557
Gene: FCER1A HGNC NCBI
COSMIC:
COSN16300666 (not active)
MyVariant.info:
GRCh38 chr1:g.159295338C>T
GRCh37 chr1:g.159265128C>T
gnomAD v2:
1:159265128 C / T
gnomAD v3:
1:159295338 C / T
gnomAD v4:
chr1-159295338-C-T
Joint Max Group AF 0.20239828 (AFR)
Genomes Max Group AF 0.20239828 (AFR)
dbSNP:
6665683
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159295338C>T , CM000663.2:g.159295338C>T GRCh38
NC_000001.10:g.159265128C>T , CM000663.1:g.159265128C>T GRCh37
NC_000001.9:g.157531752C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368115.5:c.-60+5585C>T ENSP00000357097.1:n.-60+5585C>T
NM_002001.3:c.-60+5585C>T NP_001992.1:n.-60+5585C>T
NM_002001.4:c.-60+5585C>T NP_001992.1:n.-60+5585C>T
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