Canonical Allele Identifier: CA364284545

Gene: POLR1C

Linked Data

• ClinVar Variation Id: 2990498
• ClinVar RCV Id: RCV003847177
• dbSNP Id: rs1275359131
• gnomAD v2: 6-43488419-G-C
• gnomAD v4: 6-43520681-G-C
• MyVariant Identifiers: chr6:g.43488419G>C (hg19) ; chr6:g.43520681G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520681G>C , CM000668.2:g.43520681G>C	GRCh38
NC_000006.11:g.43488419G>C , CM000668.1:g.43488419G>C	GRCh37
NC_000006.10:g.43596397G>C	NCBI36
NG_028283.1:g.8643G>C
NG_028283.3:g.15980G>C
NG_051658.1:g.60395C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.712G>C	ENSP00000496683.1:p.Asp238His
ENST00000642195.1:c.712G>C MANE Select	ENSP00000496044.1:p.Asp238His
ENST00000643341.1:c.712G>C	ENSP00000496018.1:p.Asp238His
ENST00000643799.1:c.656-251G>C	ENSP00000494529.1:n.656-251G>C
ENST00000645141.1:c.*323G>C	ENSP00000496755.1:n.*323G>C
ENST00000646188.1:c.547G>C	ENSP00000496001.1:p.Asp183His
ENST00000646433.1:c.712G>C	ENSP00000494368.1:p.Asp238His
ENST00000646700.1:c.712G>C	ENSP00000495521.1:p.Asp238His
ENST00000304004.7:c.712G>C	ENSP00000307212.3:p.Asp238His
ENST00000372344.6:c.656-251G>C	ENSP00000361419.2:n.656-251G>C
ENST00000372389.7:c.712G>C	ENSP00000361465.3:p.Asp238His
ENST00000455605.2:n.1202G>C
ENST00000481352.6:n.1084G>C
ENST00000488601.6:n.951G>C
NM_203290.2:c.712G>C	NP_976035.1:p.Asp238His
XM_005249491.1:c.712G>C	XP_005249548.1:p.Asp238His
XM_011515000.1:c.712G>C	XP_011513302.1:p.Asp238His
NM_001318876.1:c.712G>C	NP_001305805.1:p.Asp238His
NM_001363658.1:c.712G>C	NP_001350587.1:p.Asp238His
NM_203290.3:c.712G>C	NP_976035.1:p.Asp238His
NM_203290.4:c.712G>C MANE Select	NP_976035.1:p.Asp238His
NM_001363658.2:c.712G>C	NP_001350587.1:p.Asp238His
NM_001318876.2:c.712G>C	NP_001305805.1:p.Asp238His