Canonical Allele Identifier: CA1017930151
Gene: PCIF1 HGNC NCBI

Linked Data

dbSNP Id: rs2083548193
gnomAD v3: 20-45947796-G-A
gnomAD v4: 20-45947796-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45947796G>A , CM000682.2:g.45947796G>A GRCh38
NC_000020.10:g.44576435G>A , CM000682.1:g.44576435G>A GRCh37
NC_000020.9:g.44009842G>A NCBI36
NG_029772.1:g.29399C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372409.8:c.*41G>A MANE Select ENSP00000361486.3:n.*41G>A
ENST00000372409.7:c.*41G>A ENSP00000361486.3:n.*41G>A
ENST00000479348.2:c.1097G>A
NM_022104.3:c.*41G>A NP_071387.1:n.*41G>A
XM_011528980.1:c.*41G>A XP_011527282.1:n.*41G>A
XM_011528981.1:c.*41G>A XP_011527283.1:n.*41G>A
XM_011528982.1:c.*41G>A XP_011527284.1:n.*41G>A
XM_011528980.3:c.*41G>A XP_011527282.1:n.*41G>A
XM_011528981.3:c.*41G>A XP_011527283.1:n.*41G>A
XM_017028013.2:c.*41G>A XP_016883502.1:n.*41G>A
XM_017028014.2:c.*41G>A XP_016883503.1:n.*41G>A
NM_022104.4:c.*41G>A MANE Select NP_071387.1:n.*41G>A
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