Canonical Allele Identifier: CA478187503

Gene: C1R

Linked Data

• MyVariant Identifiers: chr12:g.7241463C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7088867C>T , CM000674.2:g.7088867C>T	GRCh38
NC_000012.11:g.7241463C>T , CM000674.1:g.7241463C>T	GRCh37
NC_000012.10:g.7132604C>T	NCBI36
NG_062465.1:g.8741G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647956.2:c.888G>A MANE Select	ENSP00000497341.1:p.Arg296=
ENST00000648162.1:n.860G>A
ENST00000535233.6:c.786G>A	ENSP00000438636.3:p.Arg262=
ENST00000536053.6:c.930G>A	ENSP00000444271.3:p.Arg310=
ENST00000540394.5:n.1953G>A
ENST00000542285.5:c.888G>A	ENSP00000438615.2:p.Arg296=
NM_001733.4:c.888G>A	NP_001724.3:p.Arg296=
NM_001354346.1:c.930G>A	NP_001341275.1:p.Arg310=
NM_001733.6:c.888G>A	NP_001724.4:p.Arg296=
NM_001733.7:c.888G>A MANE Select	NP_001724.4:p.Arg296=
NM_001354346.2:c.930G>A	NP_001341275.1:p.Arg310=