Canonical Allele Identifier: CA9884676

Gene: PCIF1

Linked Data

• dbSNP Id: rs147155833
• ExAC: 20:44576325 C / G
• gnomAD v2: 20-44576325-C-G
• gnomAD v3: 20-45947686-C-G
• gnomAD v4: 20-45947686-C-G
• MyVariant Identifiers: chr20:g.44576325C>G (hg19) ; chr20:g.45947686C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947686C>G , CM000682.2:g.45947686C>G	GRCh38
NC_000020.10:g.44576325C>G , CM000682.1:g.44576325C>G	GRCh37
NC_000020.9:g.44009732C>G	NCBI36
NG_029772.1:g.29509G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372409.8:c.2046C>G MANE Select	ENSP00000361486.3:p.Ser682=
ENST00000372409.7:c.2046C>G	ENSP00000361486.3:p.Ser682=
ENST00000479348.2:c.987C>G
NM_022104.3:c.2046C>G	NP_071387.1:p.Ser682=
XM_011528980.1:c.2046C>G	XP_011527282.1:p.Ser682=
XM_011528981.1:c.2046C>G	XP_011527283.1:p.Ser682=
XM_011528982.1:c.1002C>G	XP_011527284.1:p.Ser334=
XM_011528980.3:c.2046C>G	XP_011527282.1:p.Ser682=
XM_011528981.3:c.2046C>G	XP_011527283.1:p.Ser682=
XM_017028013.2:c.2046C>G	XP_016883502.1:p.Ser682=
XM_017028014.2:c.1002C>G	XP_016883503.1:p.Ser334=
NM_022104.4:c.2046C>G MANE Select	NP_071387.1:p.Ser682=