Canonical Allele Identifier: CA409231006

Gene: PCIF1

Linked Data

• gnomAD v4: 20-45947429-T-C
• MyVariant Identifiers: chr20:g.44576068T>C (hg19) ; chr20:g.45947429T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947429T>C , CM000682.2:g.45947429T>C	GRCh38
NC_000020.10:g.44576068T>C , CM000682.1:g.44576068T>C	GRCh37
NC_000020.9:g.44009475T>C	NCBI36
NG_029772.1:g.29766A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.1874T>C MANE Select	ENSP00000361486.3:p.Ile625Thr
ENST00000372409.7:c.1874T>C	ENSP00000361486.3:p.Ile625Thr
ENST00000479348.2:c.730T>C
NM_022104.3:c.1874T>C	NP_071387.1:p.Ile625Thr
XM_011528980.1:c.1874T>C	XP_011527282.1:p.Ile625Thr
XM_011528981.1:c.1874T>C	XP_011527283.1:p.Ile625Thr
XM_011528982.1:c.830T>C	XP_011527284.1:p.Ile277Thr
XM_011528980.3:c.1874T>C	XP_011527282.1:p.Ile625Thr
XM_011528981.3:c.1874T>C	XP_011527283.1:p.Ile625Thr
XM_017028013.2:c.1874T>C	XP_016883502.1:p.Ile625Thr
XM_017028014.2:c.830T>C	XP_016883503.1:p.Ile277Thr
NM_022104.4:c.1874T>C MANE Select	NP_071387.1:p.Ile625Thr