Allele Registry

Canonical Allele Identifier: CA12192506

Gene: POLR1C HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr6:g.43770093A>G

GRCh37 chr6:g.43737830A>G

Linked Data - Sequence & Population

gnomAD v2:

6:43737830 A / G

gnomAD v3:

6:43770093 A / G

gnomAD v4:

chr6-43770093-A-G

Joint Max Group AF 0.91276201 (AFR)

Genomes Max Group AF 0.91234447 (AFR)

Exomes Max Group AF 0.89753589 (AFR)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV001613910

ClinVar Variation:

1226235

dbSNP:

1570360

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43770093A>G , CM000668.2:g.43770093A>G	GRCh38
NC_000006.11:g.43737830A>G , CM000668.1:g.43737830A>G	GRCh37
NC_000006.10:g.43845808A>G	NCBI36
NG_008732.1:g.4878A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001318876.2:c.945+240822A>G	NP_001305805.1:n.945+240822A>G

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