Canonical Allele Identifier: CA14776170
Gene: PCIF1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.45947863T>C
GRCh37 chr20:g.44576502T>C
gnomAD v2:
20:44576502 T / C
gnomAD v3:
20:45947863 T / C
gnomAD v4:
chr20-45947863-T-C
Joint Max Group AF 0.19463923 (SAS)
Genomes Max Group AF 0.19376319 (SAS)
Exomes Max Group AF 0.19412959 (SAS)
dbSNP:
7679
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45947863T>C , CM000682.2:g.45947863T>C GRCh38
NC_000020.10:g.44576502T>C , CM000682.1:g.44576502T>C GRCh37
NC_000020.9:g.44009909T>C NCBI36
NG_029772.1:g.29332A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372409.8:c.*108T>C MANE Select ENSP00000361486.3:n.*108T>C
ENST00000372409.7:c.*108T>C ENSP00000361486.3:n.*108T>C
ENST00000479348.2:c.1164T>C
NM_022104.3:c.*108T>C NP_071387.1:n.*108T>C
XM_011528980.1:c.*108T>C XP_011527282.1:n.*108T>C
XM_011528981.1:c.*108T>C XP_011527283.1:n.*108T>C
XM_011528982.1:c.*108T>C XP_011527284.1:n.*108T>C
XM_011528980.3:c.*108T>C XP_011527282.1:n.*108T>C
XM_011528981.3:c.*108T>C XP_011527283.1:n.*108T>C
XM_017028013.2:c.*108T>C XP_016883502.1:n.*108T>C
XM_017028014.2:c.*108T>C XP_016883503.1:n.*108T>C
NM_022104.4:c.*108T>C MANE Select NP_071387.1:n.*108T>C
Search 100 bp 5'
Search 100 bp 3'