Canonical Allele Identifier: CA691438993

Gene: C1R

Linked Data

• dbSNP Id: rs1395111873
• gnomAD v3: 12-7086443-C-G
• gnomAD v4: 12-7086443-C-G
• MyVariant Identifiers: chr12:g.7086443C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086443C>G , CM000674.2:g.7086443C>G	GRCh38
NG_062465.1:g.11165G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1053G>C MANE Select	ENSP00000497341.1:p.Leu351=
ENST00000648162.1:n.1025G>C
ENST00000649804.1:c.147G>C	ENSP00000497938.1:p.Leu49=
ENST00000535233.6:c.951G>C	ENSP00000438636.3:p.Leu317=
ENST00000536053.6:c.1095G>C	ENSP00000444271.3:p.Leu365=
ENST00000540394.5:n.2118G>C
ENST00000542285.5:c.1053G>C	ENSP00000438615.2:p.Leu351=
ENST00000602298.2:n.1402G>C
NM_001733.4:c.1053G>C	NP_001724.3:p.Leu351=
NM_001354346.1:c.1095G>C	NP_001341275.1:p.Leu365=
NM_001733.6:c.1053G>C	NP_001724.4:p.Leu351=
NM_001733.7:c.1053G>C MANE Select	NP_001724.4:p.Leu351=
NM_001354346.2:c.1095G>C	NP_001341275.1:p.Leu365=