Canonical Allele Identifier: CA294123713
Gene: FOXJ1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.76137021C>G
GRCh37 chr17:g.74133102C>G
gnomAD v2:
17:74133102 C / G
gnomAD v3:
17:76137021 C / G
gnomAD v4:
chr17-76137021-C-G
Joint Max Group AF 0.20174855 (AFR)
Genomes Max Group AF 0.2020106 (AFR)
Exomes Max Group AF 0.1881307 (AFR)
dbSNP:
3192453
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.76137021C>G , CM000679.2:g.76137021C>G GRCh38
NC_000017.10:g.74133102C>G , CM000679.1:g.74133102C>G GRCh37
NC_000017.9:g.71644697C>G NCBI36
NG_013345.1:g.9279G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322957.7:c.*332G>C MANE Select ENSP00000323880.4:n.*332G>C
ENST00000322957.6:c.*332G>C ENSP00000323880.4:n.*332G>C
NM_001454.3:c.*332G>C NP_001445.2:n.*332G>C
NM_001454.4:c.*332G>C MANE Select NP_001445.2:n.*332G>C
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