Canonical Allele Identifier: CA383723732

Gene: C1R

Linked Data

• MyVariant Identifiers: chr12:g.7241459A>T (hg19) ; chr12:g.7088863A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7088863A>T , CM000674.2:g.7088863A>T	GRCh38
NC_000012.11:g.7241459A>T , CM000674.1:g.7241459A>T	GRCh37
NC_000012.10:g.7132600A>T	NCBI36
NG_062465.1:g.8745T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647956.2:c.892T>A MANE Select	ENSP00000497341.1:p.Trp298Arg
ENST00000648162.1:n.864T>A
ENST00000535233.6:c.790T>A	ENSP00000438636.3:p.Trp264Arg
ENST00000536053.6:c.934T>A	ENSP00000444271.3:p.Trp312Arg
ENST00000540394.5:n.1957T>A
ENST00000542285.5:c.892T>A	ENSP00000438615.2:p.Trp298Arg
NM_001733.4:c.892T>A	NP_001724.3:p.Trp298Arg
NM_001354346.1:c.934T>A	NP_001341275.1:p.Trp312Arg
NM_001733.6:c.892T>A	NP_001724.4:p.Trp298Arg
NM_001733.7:c.892T>A MANE Select	NP_001724.4:p.Trp298Arg
NM_001354346.2:c.934T>A	NP_001341275.1:p.Trp312Arg