Canonical Allele Identifier: CA13749154
Gene: CFAP251 HGNC NCBI
gnomAD v2:
12:122397476 T / C
gnomAD v3:
12:121959570 T / C
gnomAD v4:
chr12-121959570-T-C
Joint Max Group AF 0.93616638 (AFR)
Genomes Max Group AF 0.93619483 (AFR)
Exomes Max Group AF 0.82661043 (NFE)
dbSNP:
493519
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121959570T>C , CM000674.2:g.121959570T>C GRCh38
NC_000012.11:g.122397476T>C , CM000674.1:g.122397476T>C GRCh37
NC_000012.10:g.120881859T>C NCBI36
NG_021364.1:g.46014T>C
NG_021364.2:g.46014T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000288912.9:c.2133+476T>C MANE Select ENSP00000288912.4:n.2133+476T>C
ENST00000288912.8:c.2133+476T>C ENSP00000288912.4:n.2133+476T>C
ENST00000397454.2:c.2133+476T>C ENSP00000380595.2:n.2133+476T>C
ENST00000535257.1:n.2714T>C
NM_001178003.1:c.2133+476T>C NP_001171474.1:n.2133+476T>C
NM_144668.5:c.2133+476T>C NP_653269.3:n.2133+476T>C
NM_144668.6:c.2133+476T>C MANE Select NP_653269.3:n.2133+476T>C
NM_001178003.2:c.2133+476T>C NP_001171474.1:n.2133+476T>C
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