Canonical Allele Identifier: CA2366448010
Gene: PCIF1 HGNC NCBI
gnomAD v4:
chr20-45947909-T-G
Joint Max Group AF 0.00000399 (SAS)
Exomes Max Group AF 0.00000423 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45947909T>G , CM000682.2:g.45947909T>G GRCh38
NC_000020.10:g.44576548T>G , CM000682.1:g.44576548T>G GRCh37
NC_000020.9:g.44009955T>G NCBI36
NG_029772.1:g.29286A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372409.8:c.*154T>G MANE Select ENSP00000361486.3:n.*154T>G
ENST00000372409.7:c.*154T>G ENSP00000361486.3:n.*154T>G
ENST00000479348.2:c.1210T>G
NM_022104.3:c.*154T>G NP_071387.1:n.*154T>G
XM_011528980.1:c.*154T>G XP_011527282.1:n.*154T>G
XM_011528981.1:c.*154T>G XP_011527283.1:n.*154T>G
XM_011528982.1:c.*154T>G XP_011527284.1:n.*154T>G
XM_011528980.3:c.*154T>G XP_011527282.1:n.*154T>G
XM_011528981.3:c.*154T>G XP_011527283.1:n.*154T>G
XM_017028013.2:c.*154T>G XP_016883502.1:n.*154T>G
XM_017028014.2:c.*154T>G XP_016883503.1:n.*154T>G
NM_022104.4:c.*154T>G MANE Select NP_071387.1:n.*154T>G
Search 100 bp 5'
Search 100 bp 3'