Canonical Allele Identifier: CA409230580

Gene: PCIF1

Linked Data

• dbSNP Id: rs1355121511
• gnomAD v2: 20-44575974-C-G
• gnomAD v4: 20-45947335-C-G
• MyVariant Identifiers: chr20:g.44575974C>G (hg19) ; chr20:g.45947335C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947335C>G , CM000682.2:g.45947335C>G	GRCh38
NC_000020.10:g.44575974C>G , CM000682.1:g.44575974C>G	GRCh37
NC_000020.9:g.44009381C>G	NCBI36
NG_029772.1:g.29860G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.1780C>G MANE Select	ENSP00000361486.3:p.Pro594Ala
ENST00000372409.7:c.1780C>G	ENSP00000361486.3:p.Pro594Ala
ENST00000479348.2:c.636C>G
NM_022104.3:c.1780C>G	NP_071387.1:p.Pro594Ala
XM_011528980.1:c.1780C>G	XP_011527282.1:p.Pro594Ala
XM_011528981.1:c.1780C>G	XP_011527283.1:p.Pro594Ala
XM_011528982.1:c.736C>G	XP_011527284.1:p.Pro246Ala
XM_011528980.3:c.1780C>G	XP_011527282.1:p.Pro594Ala
XM_011528981.3:c.1780C>G	XP_011527283.1:p.Pro594Ala
XM_017028013.2:c.1780C>G	XP_016883502.1:p.Pro594Ala
XM_017028014.2:c.736C>G	XP_016883503.1:p.Pro246Ala
NM_022104.4:c.1780C>G MANE Select	NP_071387.1:p.Pro594Ala