Canonical Allele Identifier: CA944409673

Gene: C1R

Linked Data

• dbSNP Id: rs1938155346
• gnomAD v3: 12-7086327-C-T
• gnomAD v4: 12-7086327-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086327C>T , CM000674.2:g.7086327C>T	GRCh38
NG_062465.1:g.11281G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647956.2:c.1117+52G>A MANE Select	ENSP00000497341.1:n.1117+52G>A
ENST00000648162.1:n.1089+52G>A
ENST00000649804.1:c.211+52G>A	ENSP00000497938.1:n.211+52G>A
ENST00000535233.6:c.1015+52G>A	ENSP00000438636.3:n.1015+52G>A
ENST00000536053.6:c.1159+52G>A	ENSP00000444271.3:n.1159+52G>A
ENST00000540394.5:n.2182+52G>A
ENST00000542285.5:c.1117+52G>A	ENSP00000438615.2:n.1117+52G>A
ENST00000602298.2:n.1466+52G>A
NM_001733.4:c.1117+52G>A	NP_001724.3:n.1117+52G>A
NM_001354346.1:c.1159+52G>A	NP_001341275.1:n.1159+52G>A
NM_001733.6:c.1117+52G>A	NP_001724.4:n.1117+52G>A
NM_001733.7:c.1117+52G>A MANE Select	NP_001724.4:n.1117+52G>A
NM_001354346.2:c.1159+52G>A	NP_001341275.1:n.1159+52G>A