Canonical Allele Identifier: CA6423692

Gene: C1S

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7067743A>G , CM000674.2:g.7067743A>G	GRCh38
NC_000012.11:g.7175047A>G , CM000674.1:g.7175047A>G	GRCh37
NC_000012.10:g.7045308A>G	NCBI36
NG_011694.1:g.12068A>G , LRG_25:g.12068A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473545.2:n.3903A>G
ENST00000488701.2:n.1684A>G
ENST00000495053.2:n.3243A>G
ENST00000698563.1:n.4546A>G
ENST00000698564.1:n.2993A>G
ENST00000698565.1:n.3102A>G
ENST00000360817.10:c.1167A>G MANE Select	ENSP00000354057.5:p.Pro389=
ENST00000328916.7:c.1167A>G	ENSP00000328173.3:p.Pro389=
ENST00000360817.9:c.1167A>G	ENSP00000354057.5:p.Pro389=
ENST00000402681.7:c.666A>G	ENSP00000384171.3:p.Pro222=
ENST00000406697.5:c.1167A>G	ENSP00000385035.1:p.Pro389=
ENST00000443875.5:c.1271A>G
ENST00000461983.5:n.588A>G
ENST00000495061.5:n.128A>G
ENST00000497061.1:n.349A>G
ENST00000617865.4:c.1131A>G	ENSP00000484657.1:p.Pro377=
NM_001734.3:c.1167A>G , LRG_25t1:c.1167A>G	NP_001725.1:p.Pro389=
NM_201442.2:c.1167A>G	NP_958850.1:p.Pro389=
XM_005253760.1:c.1167A>G	XP_005253817.1:p.Pro389=
NM_001346850.1:c.666A>G	NP_001333779.1:p.Pro222=
NM_001734.4:c.1167A>G	NP_001725.1:p.Pro389=
NM_201442.3:c.1167A>G	NP_958850.1:p.Pro389=
XM_005253760.2:c.1167A>G	XP_005253817.1:p.Pro389=
NM_001734.5:c.1167A>G MANE Select	NP_001725.1:p.Pro389=
NM_001346850.2:c.666A>G	NP_001333779.1:p.Pro222=
NM_201442.4:c.1167A>G	NP_958850.1:p.Pro389=