Canonical Allele Identifier: CA383723716

Gene: C1R

Linked Data

• MyVariant Identifiers: chr12:g.7241455T>G (hg19) ; chr12:g.7088859T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7088859T>G , CM000674.2:g.7088859T>G	GRCh38
NC_000012.11:g.7241455T>G , CM000674.1:g.7241455T>G	GRCh37
NC_000012.10:g.7132596T>G	NCBI36
NG_062465.1:g.8749A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647956.2:c.896A>C MANE Select	ENSP00000497341.1:p.Lys299Thr
ENST00000648162.1:n.868A>C
ENST00000535233.6:c.794A>C	ENSP00000438636.3:p.Lys265Thr
ENST00000536053.6:c.938A>C	ENSP00000444271.3:p.Lys313Thr
ENST00000540394.5:n.1961A>C
ENST00000542285.5:c.896A>C	ENSP00000438615.2:p.Lys299Thr
NM_001733.4:c.896A>C	NP_001724.3:p.Lys299Thr
NM_001354346.1:c.938A>C	NP_001341275.1:p.Lys313Thr
NM_001733.6:c.896A>C	NP_001724.4:p.Lys299Thr
NM_001733.7:c.896A>C MANE Select	NP_001724.4:p.Lys299Thr
NM_001354346.2:c.938A>C	NP_001341275.1:p.Lys313Thr