Canonical Allele Identifier: CA232466478

Gene: C1R

Linked Data

• dbSNP Id: rs1017684228
• gnomAD v3: 12-7086448-C-T
• gnomAD v4: 12-7086448-C-T
• MyVariant Identifiers: chr12:g.7086448C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086448C>T , CM000674.2:g.7086448C>T	GRCh38
NG_062465.1:g.11160G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647956.2:c.1048G>A MANE Select	ENSP00000497341.1:p.Val350Met
ENST00000648162.1:n.1020G>A
ENST00000649804.1:c.142G>A	ENSP00000497938.1:p.Val48Met
ENST00000535233.6:c.946G>A	ENSP00000438636.3:p.Val316Met
ENST00000536053.6:c.1090G>A	ENSP00000444271.3:p.Val364Met
ENST00000540394.5:n.2113G>A
ENST00000542285.5:c.1048G>A	ENSP00000438615.2:p.Val350Met
ENST00000602298.2:n.1397G>A
NM_001733.4:c.1048G>A	NP_001724.3:p.Val350Met
NM_001354346.1:c.1090G>A	NP_001341275.1:p.Val364Met
NM_001733.6:c.1048G>A	NP_001724.4:p.Val350Met
NM_001733.7:c.1048G>A MANE Select	NP_001724.4:p.Val350Met
NM_001354346.2:c.1090G>A	NP_001341275.1:p.Val364Met