Canonical Allele Identifier: CA2014392197

Gene: C1R

Linked Data

• dbSNP Id: rs1017684228
• gnomAD v4: 12-7086448-C-A

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000647956.2:c.1048G>T MANE Select	ENSP00000497341.1:p.Val350Leu
ENST00000648162.1:n.1020G>T
ENST00000649804.1:c.142G>T	ENSP00000497938.1:p.Val48Leu
ENST00000535233.6:c.946G>T	ENSP00000438636.3:p.Val316Leu
ENST00000536053.6:c.1090G>T	ENSP00000444271.3:p.Val364Leu
ENST00000540394.5:n.2113G>T
ENST00000542285.5:c.1048G>T	ENSP00000438615.2:p.Val350Leu
ENST00000602298.2:n.1397G>T
NM_001733.4:c.1048G>T	NP_001724.3:p.Val350Leu
NM_001354346.1:c.1090G>T	NP_001341275.1:p.Val364Leu
NM_001733.6:c.1048G>T	NP_001724.4:p.Val350Leu
NM_001733.7:c.1048G>T MANE Select	NP_001724.4:p.Val350Leu
NM_001354346.2:c.1090G>T	NP_001341275.1:p.Val364Leu