Canonical Allele Identifier: CA1088386708
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1763163867
gnomAD v3: 6-43770065-C-T
gnomAD v4: 6-43770065-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43770065C>T , CM000668.2:g.43770065C>T GRCh38
NC_000006.11:g.43737802C>T , CM000668.1:g.43737802C>T GRCh37
NC_000006.10:g.43845780C>T NCBI36
NG_008732.1:g.4850C>T

Transcript Alleles

HGVS Amino-acid change
NM_001318876.2:c.945+240794C>T NP_001305805.1:n.945+240794C>T