Canonical Allele Identifier: CA3826954

Gene: POLH POLR1C

Linked Data

• ClinVar Variation Id: 1331405
• ClinVar RCV Id: RCV001806749
• dbSNP Id: rs758423288
• ExAC: 6:43555068 G / A
• gnomAD v2: 6-43555068-G-A
• gnomAD v3: 6-43587331-G-A
• gnomAD v4: 6-43587331-G-A
• COSMIC: COSM4382703
• MyVariant Identifiers: chr6:g.43555068G>A (hg19) ; chr6:g.43587331G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43587331G>A , CM000668.2:g.43587331G>A	GRCh38
NC_000006.11:g.43555068G>A , CM000668.1:g.43555068G>A	GRCh37
NC_000006.10:g.43663046G>A	NCBI36
NG_009252.1:g.16191G>A , LRG_470:g.16191G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.9:c.332G>A (POLH) MANE Select	ENSP00000361310.4:p.Arg111His
ENST00000372226.1:c.332G>A (POLH)	ENSP00000361300.1:p.Arg111His
ENST00000372236.8:c.332G>A (POLH)	ENSP00000361310.4:p.Arg111His
ENST00000443535.1:c.146G>A (POLH)	ENSP00000405320.1:p.Arg49His
NM_001291969.1:c.118+4190G>A (POLH)	NP_001278898.1:n.118+4190G>A
NM_001291970.1:c.332G>A (POLH)	NP_001278899.1:p.Arg111His
NM_006502.2:c.332G>A , LRG_470t1:c.332G>A (POLH)	NP_006493.1:p.Arg111His
XM_005249186.2:c.146G>A (POLH)	XP_005249243.1:p.Arg49His
XM_011514698.1:c.118+4190G>A (POLH)	XP_011513000.1:n.118+4190G>A
XM_005249186.4:c.146G>A (POLH)	XP_005249243.1:p.Arg49His
XM_011514698.3:c.118+4190G>A (POLH)	XP_011513000.1:n.118+4190G>A
XM_024446466.1:c.80G>A (POLH)	XP_024302234.1:p.Arg27His
XM_024446467.1:c.-288G>A (POLH)	XP_024302235.1:n.-288G>A
NM_001291969.2:c.118+4190G>A (POLH)	NP_001278898.1:n.118+4190G>A
NM_001291970.2:c.332G>A (POLH)	NP_001278899.1:p.Arg111His
NM_006502.3:c.332G>A (POLH) MANE Select	NP_006493.1:p.Arg111His
NM_001318876.2:c.945+58060G>A (POLR1C)	NP_001305805.1:n.945+58060G>A