Canonical Allele Identifier: CA1017930253

Gene: PCIF1

Linked Data

• dbSNP Id: rs2083551231
• gnomAD v3: 20-45947973-G-C
• gnomAD v4: 20-45947973-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947973G>C , CM000682.2:g.45947973G>C	GRCh38
NC_000020.10:g.44576612G>C , CM000682.1:g.44576612G>C	GRCh37
NC_000020.9:g.44010019G>C	NCBI36
NG_029772.1:g.29222C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.*218G>C MANE Select	ENSP00000361486.3:n.*218G>C
ENST00000372409.7:c.*218G>C	ENSP00000361486.3:n.*218G>C
ENST00000479348.2:c.1274G>C
NM_022104.3:c.*218G>C	NP_071387.1:n.*218G>C
XM_011528980.1:c.*218G>C	XP_011527282.1:n.*218G>C
XM_011528981.1:c.*218G>C	XP_011527283.1:n.*218G>C
XM_011528982.1:c.*218G>C	XP_011527284.1:n.*218G>C
XM_011528980.3:c.*218G>C	XP_011527282.1:n.*218G>C
XM_011528981.3:c.*218G>C	XP_011527283.1:n.*218G>C
XM_017028013.2:c.*218G>C	XP_016883502.1:n.*218G>C
XM_017028014.2:c.*218G>C	XP_016883503.1:n.*218G>C
NM_022104.4:c.*218G>C MANE Select	NP_071387.1:n.*218G>C