Canonical Allele Identifier: CA1017930239

Gene: PCIF1

Linked Data

• dbSNP Id: rs2083550163
• gnomAD v3: 20-45947917-C-A
• gnomAD v4: 20-45947917-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947917C>A , CM000682.2:g.45947917C>A	GRCh38
NC_000020.10:g.44576556C>A , CM000682.1:g.44576556C>A	GRCh37
NC_000020.9:g.44009963C>A	NCBI36
NG_029772.1:g.29278G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372409.8:c.*162C>A MANE Select	ENSP00000361486.3:n.*162C>A
ENST00000372409.7:c.*162C>A	ENSP00000361486.3:n.*162C>A
ENST00000479348.2:c.1218C>A
NM_022104.3:c.*162C>A	NP_071387.1:n.*162C>A
XM_011528980.1:c.*162C>A	XP_011527282.1:n.*162C>A
XM_011528981.1:c.*162C>A	XP_011527283.1:n.*162C>A
XM_011528982.1:c.*162C>A	XP_011527284.1:n.*162C>A
XM_011528980.3:c.*162C>A	XP_011527282.1:n.*162C>A
XM_011528981.3:c.*162C>A	XP_011527283.1:n.*162C>A
XM_017028013.2:c.*162C>A	XP_016883502.1:n.*162C>A
XM_017028014.2:c.*162C>A	XP_016883503.1:n.*162C>A
NM_022104.4:c.*162C>A MANE Select	NP_071387.1:n.*162C>A