Canonical Allele Identifier: CA224144318
Gene: CLCF1 HGNC NCBI
RAD9A HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.67365224C>T
GRCh37 chr11:g.67132695C>T
Revel Score:
ENST00000312438 (MANE Select) 0.749
ENST00000533438 0.749
ENST00000528474 0.749
gnomAD v2:
11:67132695 C / T
gnomAD v3:
11:67365224 C / T
gnomAD v4:
chr11-67365224-C-T
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67365224C>T , CM000673.2:g.67365224C>T GRCh38
NC_000011.9:g.67132695C>T , CM000673.1:g.67132695C>T GRCh37
NC_000011.8:g.66889271C>T NCBI36
NG_013377.1:g.13954G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312438.8:c.590G>A (CLCF1) MANE Select ENSP00000309338.7:p.Arg197His
ENST00000312438.7:c.590G>A (CLCF1) ENSP00000309338.7:p.Arg197His
ENST00000533438.1:c.560G>A (CLCF1) ENSP00000434122.1:p.Arg187His
ENST00000543494.1:c.16+8300G>A ENSP00000480527.1:n.16+8300G>A
ENST00000622583.4:n.392-22311C>T (RAD9A)
NM_001166212.1:c.560G>A (CLCF1) NP_001159684.1:p.Arg187His
NM_013246.2:c.590G>A (CLCF1) NP_037378.1:p.Arg197His
NR_024469.1:n.424-22311C>T
NM_013246.3:c.590G>A (CLCF1) MANE Select NP_037378.1:p.Arg197His
NM_001166212.2:c.560G>A (CLCF1) NP_001159684.1:p.Arg187His
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