Canonical Allele Identifier: CA315641510

Gene: PCIF1

Linked Data

• dbSNP Id: rs541937448
• gnomAD v4: 20-45947907-C-T
• MyVariant Identifiers: chr20:g.44576546C>T (hg19) ; chr20:g.45947907C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947907C>T , CM000682.2:g.45947907C>T	GRCh38
NC_000020.10:g.44576546C>T , CM000682.1:g.44576546C>T	GRCh37
NC_000020.9:g.44009953C>T	NCBI36
NG_029772.1:g.29288G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372409.8:c.*152C>T MANE Select	ENSP00000361486.3:n.*152C>T
ENST00000372409.7:c.*152C>T	ENSP00000361486.3:n.*152C>T
ENST00000479348.2:c.1208C>T
NM_022104.3:c.*152C>T	NP_071387.1:n.*152C>T
XM_011528980.1:c.*152C>T	XP_011527282.1:n.*152C>T
XM_011528981.1:c.*152C>T	XP_011527283.1:n.*152C>T
XM_011528982.1:c.*152C>T	XP_011527284.1:n.*152C>T
XM_011528980.3:c.*152C>T	XP_011527282.1:n.*152C>T
XM_011528981.3:c.*152C>T	XP_011527283.1:n.*152C>T
XM_017028013.2:c.*152C>T	XP_016883502.1:n.*152C>T
XM_017028014.2:c.*152C>T	XP_016883503.1:n.*152C>T
NM_022104.4:c.*152C>T MANE Select	NP_071387.1:n.*152C>T