Canonical Allele Identifier: CA31360947
Gene: FCER1A HGNC NCBI
dbSNP:
12136904
gnomAD v2:
1:159265892 T / C
gnomAD v3:
1:159296102 T / C
gnomAD v4:
chr1-159296102-T-C
Joint Max Group AF 0.06482343 (MID)
Genomes Max Group AF 0.04731964 (SAS)
MyVariant.info:
GRCh38 chr1:g.159296102T>C
GRCh37 chr1:g.159265892T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159296102T>C , CM000663.2:g.159296102T>C GRCh38
NC_000001.10:g.159265892T>C , CM000663.1:g.159265892T>C GRCh37
NC_000001.9:g.157532516T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368115.5:c.-59-6204T>C ENSP00000357097.1:n.-59-6204T>C
NM_002001.3:c.-59-6204T>C NP_001992.1:n.-59-6204T>C
NM_002001.4:c.-59-6204T>C NP_001992.1:n.-59-6204T>C
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