Canonical Allele Identifier: CA121982

Gene: POLR1C

Linked Data

• ClinVar Variation Id: 12224
• ClinVar RCV Id: RCV000013008
• dbSNP Id: rs699947
• gnomAD v2: 6-43736389-A-C
• gnomAD v3: 6-43768652-A-C
• gnomAD v4: 6-43768652-A-C
• MyVariant Identifiers: chr6:g.43736389A>C (hg19) ; chr6:g.43768652A>C (hg38)
• PubMed: PMID:15732116 ; PMID:15937083 ; PMID:18413368

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43768652A>C , CM000668.2:g.43768652A>C	GRCh38
NC_000006.11:g.43736389A>C , CM000668.1:g.43736389A>C	GRCh37
NC_000006.10:g.43844367A>C	NCBI36
NG_008732.1:g.3437A>C

Transcript Alleles

HGVS	Amino-acid change
NM_001318876.2:c.945+239381A>C	NP_001305805.1:n.945+239381A>C