Canonical Allele Identifier: CA10626932

Gene: POLH POLR1C

Linked Data

• ClinVar Variation Id: 356886
• ClinVar RCV Id: RCV000281784
• dbSNP Id: rs185054720
• gnomAD v2: 6-43543908-C-A
• gnomAD v3: 6-43576171-C-A
• gnomAD v4: 6-43576171-C-A
• COSMIC: COSN16462139
• MyVariant Identifiers: chr6:g.43543908C>A (hg19) ; chr6:g.43576171C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43576171C>A , CM000668.2:g.43576171C>A	GRCh38
NC_000006.11:g.43543908C>A , CM000668.1:g.43543908C>A	GRCh37
NC_000006.10:g.43651886C>A	NCBI36
NG_009252.1:g.5031C>A , LRG_470:g.5031C>A
NG_051658.1:g.4905G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.8:c.-274C>A (POLH)	ENSP00000361310.4:n.-274C>A
NM_001291969.1:c.-287C>A (POLH)	NP_001278898.1:n.-287C>A
NM_001291970.1:c.-274C>A (POLH)	NP_001278899.1:n.-274C>A
NM_006502.2:c.-274C>A , LRG_470t1:c.-274C>A (POLH)	NP_006493.1:n.-274C>A
XM_005249186.2:c.-319C>A (POLH)	XP_005249243.1:n.-319C>A
XM_011514698.1:c.-428C>A (POLH)	XP_011513000.1:n.-428C>A
XM_005249186.4:c.-319C>A (POLH)	XP_005249243.1:n.-319C>A
XM_011514698.3:c.-428C>A (POLH)	XP_011513000.1:n.-428C>A
XM_024446466.1:c.-3277C>A (POLH)	XP_024302234.1:n.-3277C>A
XM_024446467.1:c.-893C>A (POLH)	XP_024302235.1:n.-893C>A
NM_001318876.2:c.945+46900C>A (POLR1C)	NP_001305805.1:n.945+46900C>A