Canonical Allele Identifier: CA383705424

Gene: C1S

Linked Data

• dbSNP Id: rs121909582
• MyVariant Identifiers: chr12:g.7177488C>G (hg19) ; chr12:g.7070184C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7070184C>G , CM000674.2:g.7070184C>G	GRCh38
NC_000012.11:g.7177488C>G , CM000674.1:g.7177488C>G	GRCh37
NC_000012.10:g.7047749C>G	NCBI36
NG_011694.1:g.14509C>G , LRG_25:g.14509C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000473545.2:n.4336C>G
ENST00000488701.2:n.2117C>G
ENST00000495053.2:n.3676C>G
ENST00000698563.1:n.4979C>G
ENST00000698564.1:n.3426C>G
ENST00000698565.1:n.3535C>G
ENST00000360817.10:c.1600C>G MANE Select	ENSP00000354057.5:p.Arg534Gly
ENST00000328916.7:c.1600C>G	ENSP00000328173.3:p.Arg534Gly
ENST00000360817.9:c.1600C>G	ENSP00000354057.5:p.Arg534Gly
ENST00000402681.7:c.1099C>G	ENSP00000384171.3:p.Arg367Gly
ENST00000406697.5:c.1600C>G	ENSP00000385035.1:p.Arg534Gly
ENST00000443875.5:c.1704C>G
ENST00000495061.5:n.776C>G
ENST00000617865.4:c.1582C>G	ENSP00000484657.1:p.Arg528Gly
NM_001734.3:c.1600C>G , LRG_25t1:c.1600C>G	NP_001725.1:p.Arg534Gly
NM_201442.2:c.1600C>G	NP_958850.1:p.Arg534Gly
XM_005253760.1:c.1600C>G	XP_005253817.1:p.Arg534Gly
NM_001346850.1:c.1099C>G	NP_001333779.1:p.Arg367Gly
NM_001734.4:c.1600C>G	NP_001725.1:p.Arg534Gly
NM_201442.3:c.1600C>G	NP_958850.1:p.Arg534Gly
XM_005253760.2:c.1600C>G	XP_005253817.1:p.Arg534Gly
NM_001734.5:c.1600C>G MANE Select	NP_001725.1:p.Arg534Gly
NM_001346850.2:c.1099C>G	NP_001333779.1:p.Arg367Gly
NM_201442.4:c.1600C>G	NP_958850.1:p.Arg534Gly