Canonical Allele Identifier: CA3834780
Gene: POLR1C HGNC NCBI

Linked Data

ClinVar Variation Id: 377395
ClinVar RCV Id: RCV000421996
dbSNP Id: rs138333586
gnomAD v2: 6-44281101-G-A
gnomAD v3: 6-44313364-G-A
gnomAD v4: 6-44313364-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313364G>A , CM000668.2:g.44313364G>A GRCh38
NC_000006.11:g.44281101G>A , CM000668.1:g.44281101G>A GRCh37
NC_000006.10:g.44389079G>A NCBI36
NG_031952.1:g.4963C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000505802.1:c.855+5722G>A
NM_001318876.2:c.946-128526G>A NP_001305805.1:n.946-128526G>A