Canonical Allele Identifier: CA6423447

Gene: C1S

Linked Data

• ClinVar Variation Id: 1577487
• ClinVar RCV Id: RCV002080999
• dbSNP Id: rs782792584
• ExAC: 12:7171557 T / C
• gnomAD v2: 12-7171557-T-C
• gnomAD v3: 12-7064253-T-C
• gnomAD v4: 12-7064253-T-C
• MyVariant Identifiers: chr12:g.7171557T>C (hg19) ; chr12:g.7064253T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7064253T>C , CM000674.2:g.7064253T>C	GRCh38
NC_000012.11:g.7171557T>C , CM000674.1:g.7171557T>C	GRCh37
NC_000012.10:g.7041818T>C	NCBI36
NG_011694.1:g.8578T>C , LRG_25:g.8578T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473545.2:n.2162T>C
ENST00000488701.2:n.909-14T>C
ENST00000495053.2:n.1907T>C
ENST00000698563.1:n.2120T>C
ENST00000698564.1:n.1266-14T>C
ENST00000698565.1:n.2313T>C
ENST00000360817.10:c.392-14T>C MANE Select	ENSP00000354057.5:n.392-14T>C
ENST00000328916.7:c.392-14T>C	ENSP00000328173.3:n.392-14T>C
ENST00000360817.9:c.392-14T>C	ENSP00000354057.5:n.392-14T>C
ENST00000402681.7:c.-110-14T>C	ENSP00000384171.3:n.-110-14T>C
ENST00000403949.5:c.392-14T>C	ENSP00000384464.1:n.392-14T>C
ENST00000406697.5:c.392-14T>C	ENSP00000385035.1:n.392-14T>C
ENST00000443875.5:c.466-14T>C
ENST00000463798.1:n.76T>C
ENST00000495053.1:n.345T>C
ENST00000541647.1:n.374-14T>C
ENST00000542978.1:c.-110-14T>C	ENSP00000442298.1:n.-110-14T>C
ENST00000617865.4:c.386-41T>C	ENSP00000484657.1:n.386-41T>C
NM_001734.3:c.392-14T>C , LRG_25t1:c.392-14T>C	NP_001725.1:n.392-14T>C
NM_201442.2:c.392-14T>C	NP_958850.1:n.392-14T>C
XM_005253760.1:c.392-14T>C	XP_005253817.1:n.392-14T>C
NM_001346850.1:c.-110-14T>C	NP_001333779.1:n.-110-14T>C
NM_001734.4:c.392-14T>C	NP_001725.1:n.392-14T>C
NM_201442.3:c.392-14T>C	NP_958850.1:n.392-14T>C
XM_005253760.2:c.392-14T>C	XP_005253817.1:n.392-14T>C
NM_001734.5:c.392-14T>C MANE Select	NP_001725.1:n.392-14T>C
NM_001346850.2:c.-110-14T>C	NP_001333779.1:n.-110-14T>C
NM_201442.4:c.392-14T>C	NP_958850.1:n.392-14T>C