Canonical Allele Identifier: CA9884601

Gene: PCIF1

Linked Data

• ClinVar Variation Id: 2252826
• ClinVar RCV Id: RCV004114031
• dbSNP Id: rs757958805
• ExAC: 20:44576002 G / A
• gnomAD v2: 20-44576002-G-A
• gnomAD v4: 20-45947363-G-A
• MyVariant Identifiers: chr20:g.44576002G>A (hg19) ; chr20:g.45947363G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947363G>A , CM000682.2:g.45947363G>A	GRCh38
NC_000020.10:g.44576002G>A , CM000682.1:g.44576002G>A	GRCh37
NC_000020.9:g.44009409G>A	NCBI36
NG_029772.1:g.29832C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.1808G>A MANE Select	ENSP00000361486.3:p.Arg603His
ENST00000372409.7:c.1808G>A	ENSP00000361486.3:p.Arg603His
ENST00000479348.2:c.664G>A
NM_022104.3:c.1808G>A	NP_071387.1:p.Arg603His
XM_011528980.1:c.1808G>A	XP_011527282.1:p.Arg603His
XM_011528981.1:c.1808G>A	XP_011527283.1:p.Arg603His
XM_011528982.1:c.764G>A	XP_011527284.1:p.Arg255His
XM_011528980.3:c.1808G>A	XP_011527282.1:p.Arg603His
XM_011528981.3:c.1808G>A	XP_011527283.1:p.Arg603His
XM_017028013.2:c.1808G>A	XP_016883502.1:p.Arg603His
XM_017028014.2:c.764G>A	XP_016883503.1:p.Arg255His
NM_022104.4:c.1808G>A MANE Select	NP_071387.1:p.Arg603His