Canonical Allele Identifier: CA9884662

Gene: PCIF1

Linked Data

• dbSNP Id: rs753543857
• ExAC: 20:44576281 C / T
• gnomAD v2: 20-44576281-C-T
• gnomAD v3: 20-45947642-C-T
• gnomAD v4: 20-45947642-C-T
• MyVariant Identifiers: chr20:g.44576281C>T (hg19) ; chr20:g.45947642C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947642C>T , CM000682.2:g.45947642C>T	GRCh38
NC_000020.10:g.44576281C>T , CM000682.1:g.44576281C>T	GRCh37
NC_000020.9:g.44009688C>T	NCBI36
NG_029772.1:g.29553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.2002C>T MANE Select	ENSP00000361486.3:p.Arg668Trp
ENST00000372409.7:c.2002C>T	ENSP00000361486.3:p.Arg668Trp
ENST00000479348.2:c.943C>T
NM_022104.3:c.2002C>T	NP_071387.1:p.Arg668Trp
XM_011528980.1:c.2002C>T	XP_011527282.1:p.Arg668Trp
XM_011528981.1:c.2002C>T	XP_011527283.1:p.Arg668Trp
XM_011528982.1:c.958C>T	XP_011527284.1:p.Arg320Trp
XM_011528980.3:c.2002C>T	XP_011527282.1:p.Arg668Trp
XM_011528981.3:c.2002C>T	XP_011527283.1:p.Arg668Trp
XM_017028013.2:c.2002C>T	XP_016883502.1:p.Arg668Trp
XM_017028014.2:c.958C>T	XP_016883503.1:p.Arg320Trp
NM_022104.4:c.2002C>T MANE Select	NP_071387.1:p.Arg668Trp