Canonical Allele Identifier: CA2617391433

Gene: C1R

Linked Data

• gnomAD v4: 12-7086451-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086451G>A , CM000674.2:g.7086451G>A	GRCh38
NG_062465.1:g.11157C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647956.2:c.1045C>T MANE Select	ENSP00000497341.1:p.Gln349Ter
ENST00000648162.1:n.1017C>T
ENST00000649804.1:c.139C>T	ENSP00000497938.1:p.Gln47Ter
ENST00000535233.6:c.943C>T	ENSP00000438636.3:p.Gln315Ter
ENST00000536053.6:c.1087C>T	ENSP00000444271.3:p.Gln363Ter
ENST00000540394.5:n.2110C>T
ENST00000542285.5:c.1045C>T	ENSP00000438615.2:p.Gln349Ter
ENST00000602298.2:n.1394C>T
NM_001733.4:c.1045C>T	NP_001724.3:p.Gln349Ter
NM_001354346.1:c.1087C>T	NP_001341275.1:p.Gln363Ter
NM_001733.6:c.1045C>T	NP_001724.4:p.Gln349Ter
NM_001733.7:c.1045C>T MANE Select	NP_001724.4:p.Gln349Ter
NM_001354346.2:c.1087C>T	NP_001341275.1:p.Gln363Ter