Canonical Allele Identifier: CA2008386

Gene: CWC22

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.179945409T>C , CM000664.2:g.179945409T>C	GRCh38
NC_000002.11:g.180810136T>C , CM000664.1:g.180810136T>C	GRCh37
NC_000002.10:g.180518381T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000410053.8:c.2447A>G MANE Select	ENSP00000387006.3:p.His816Arg
ENST00000410053.7:c.2447A>G	ENSP00000387006.3:p.His816Arg
NM_020943.2:c.2447A>G	NP_065994.1:p.His816Arg
XM_005246726.1:c.2447A>G	XP_005246783.1:p.His816Arg
XM_005246726.3:c.2447A>G	XP_005246783.1:p.His816Arg
NM_020943.3:c.2447A>G MANE Select	NP_065994.1:p.His816Arg
NM_001376029.1:c.2447A>G	NP_001362958.1:p.His816Arg
NM_001376030.1:c.2447A>G	NP_001362959.1:p.His816Arg
NM_001376032.1:c.2324A>G	NP_001362961.1:p.His775Arg
NM_001376033.1:c.*303A>G	NP_001362962.1:n.*303A>G