Canonical Allele Identifier: CA3825441

Gene: POLR1C

Linked Data

• ClinVar Variation Id: 1493200
• ClinVar RCV Id: RCV001984193
• dbSNP Id: rs146162408
• ExAC: 6:43487873 A / T
• gnomAD v2: 6-43487873-A-T
• gnomAD v3: 6-43520135-A-T
• gnomAD v4: 6-43520135-A-T
• MyVariant Identifiers: chr6:g.43487873A>T (hg19) ; chr6:g.43487873_43487876delinsTTGC (hg19) ; chr6:g.43520135A>T (hg38) ; chr6:g.43520135_43520138delinsTTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520135A>T , CM000668.2:g.43520135A>T	GRCh38
NC_000006.11:g.43487873A>T , CM000668.1:g.43487873A>T	GRCh37
NC_000006.10:g.43595851A>T	NCBI36
NG_028283.1:g.8097A>T
NG_028283.3:g.15434A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.452A>T	ENSP00000496683.1:p.His151Leu
ENST00000642195.1:c.452A>T MANE Select	ENSP00000496044.1:p.His151Leu
ENST00000643341.1:c.452A>T	ENSP00000496018.1:p.His151Leu
ENST00000643799.1:c.452A>T	ENSP00000494529.1:p.His151Leu
ENST00000645141.1:c.*63A>T	ENSP00000496755.1:n.*63A>T
ENST00000646188.1:c.287A>T	ENSP00000496001.1:p.His96Leu
ENST00000646433.1:c.452A>T	ENSP00000494368.1:p.His151Leu
ENST00000646700.1:c.452A>T	ENSP00000495521.1:p.His151Leu
ENST00000304004.7:c.452A>T	ENSP00000307212.3:p.His151Leu
ENST00000372344.6:c.452A>T	ENSP00000361419.2:p.His151Leu
ENST00000372389.7:c.452A>T	ENSP00000361465.3:p.His151Leu
ENST00000423780.1:c.381-140A>T
ENST00000428025.6:c.287A>T	ENSP00000395401.2:p.His96Leu
ENST00000455605.2:n.656A>T
ENST00000481352.6:n.735A>T
ENST00000488601.6:n.691A>T
NM_203290.2:c.452A>T	NP_976035.1:p.His151Leu
XM_005249491.1:c.452A>T	XP_005249548.1:p.His151Leu
XM_011515000.1:c.452A>T	XP_011513302.1:p.His151Leu
NM_001318876.1:c.452A>T	NP_001305805.1:p.His151Leu
NM_001363658.1:c.452A>T	NP_001350587.1:p.His151Leu
NM_203290.3:c.452A>T	NP_976035.1:p.His151Leu
NM_203290.4:c.452A>T MANE Select	NP_976035.1:p.His151Leu
NM_001363658.2:c.452A>T	NP_001350587.1:p.His151Leu
NM_001318876.2:c.452A>T	NP_001305805.1:p.His151Leu