Canonical Allele Identifier: CA351129057
Gene: FAM124B HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.224379638A>G
GRCh37 chr2:g.225244355A>G
Revel Score:
ENST00000409685 (MANE Select) 0.032
gnomAD v2:
2:225244355 A / G
gnomAD v3:
2:224379638 A / G
gnomAD v4:
chr2-224379638-A-G
Joint Max Group AF 0.00001778 (AFR)
Genomes Max Group AF 0.00003249 (AFR)
ClinVar RCV:
RCV004166990
ClinVar Variation:
2323812
dbSNP:
1164680802
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.224379638A>G , CM000664.2:g.224379638A>G GRCh38
NC_000002.11:g.225244355A>G , CM000664.1:g.225244355A>G GRCh37
NC_000002.10:g.224952599A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000409685.4:c.1303T>C MANE Select ENSP00000386895.3:p.Cys435Arg
ENST00000389874.3:c.*609T>C ENSP00000374524.3:n.*609T>C
ENST00000409685.3:c.1303T>C ENSP00000386895.3:p.Cys435Arg
NM_001122779.1:c.1303T>C NP_001116251.1:p.Cys435Arg
NM_024785.2:c.*609T>C NP_079061.2:n.*609T>C
NM_001122779.2:c.1303T>C MANE Select NP_001116251.1:p.Cys435Arg
NM_024785.3:c.*609T>C NP_079061.2:n.*609T>C
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