Canonical Allele Identifier: CA383689326

Gene: C1S

Linked Data

• ClinVar Variation Id: 2131837
• ClinVar RCV Id: RCV003036449
• MyVariant Identifiers: chr12:g.7170289C>A (hg19) ; chr12:g.7062985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7062985C>A , CM000674.2:g.7062985C>A	GRCh38
NC_000012.11:g.7170289C>A , CM000674.1:g.7170289C>A	GRCh37
NC_000012.10:g.7040550C>A	NCBI36
NG_011694.1:g.7310C>A , LRG_25:g.7310C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473545.2:n.894C>A
ENST00000488701.2:n.826C>A
ENST00000495053.2:n.639C>A
ENST00000698563.1:n.852C>A
ENST00000698564.1:n.825C>A
ENST00000698565.1:n.1045C>A
ENST00000360817.10:c.309C>A MANE Select	ENSP00000354057.5:p.Tyr103Ter
ENST00000328916.7:c.309C>A	ENSP00000328173.3:p.Tyr103Ter
ENST00000360817.9:c.309C>A	ENSP00000354057.5:p.Tyr103Ter
ENST00000402681.7:c.-193C>A	ENSP00000384171.3:n.-193C>A
ENST00000403949.5:c.309C>A	ENSP00000384464.1:p.Tyr103Ter
ENST00000406697.5:c.309C>A	ENSP00000385035.1:p.Tyr103Ter
ENST00000413211.5:c.309C>A	ENSP00000406643.1:p.Tyr103Ter
ENST00000443875.5:c.383C>A
ENST00000541647.1:n.291C>A
ENST00000542978.1:c.-111+323C>A	ENSP00000442298.1:n.-111+323C>A
ENST00000617865.4:c.255C>A	ENSP00000484657.1:p.Tyr85Ter
NM_001734.3:c.309C>A , LRG_25t1:c.309C>A	NP_001725.1:p.Tyr103Ter
NM_201442.2:c.309C>A	NP_958850.1:p.Tyr103Ter
XM_005253760.1:c.309C>A	XP_005253817.1:p.Tyr103Ter
NM_001346850.1:c.-193C>A	NP_001333779.1:n.-193C>A
NM_001734.4:c.309C>A	NP_001725.1:p.Tyr103Ter
NM_201442.3:c.309C>A	NP_958850.1:p.Tyr103Ter
XM_005253760.2:c.309C>A	XP_005253817.1:p.Tyr103Ter
NM_001734.5:c.309C>A MANE Select	NP_001725.1:p.Tyr103Ter
NM_001346850.2:c.-193C>A	NP_001333779.1:n.-193C>A
NM_201442.4:c.309C>A	NP_958850.1:p.Tyr103Ter