Canonical Allele Identifier: CA383689010

Gene: C1S

Linked Data

• ClinVar Variation Id: 1999070
• ClinVar RCV Id: RCV002815136
• gnomAD v4: 12-7062936-G-A
• MyVariant Identifiers: chr12:g.7170240G>A (hg19) ; chr12:g.7062936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7062936G>A , CM000674.2:g.7062936G>A	GRCh38
NC_000012.11:g.7170240G>A , CM000674.1:g.7170240G>A	GRCh37
NC_000012.10:g.7040501G>A	NCBI36
NG_011694.1:g.7261G>A , LRG_25:g.7261G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473545.2:n.845G>A
ENST00000488701.2:n.777G>A
ENST00000495053.2:n.590G>A
ENST00000698563.1:n.803G>A
ENST00000698564.1:n.776G>A
ENST00000698565.1:n.996G>A
ENST00000360817.10:c.260G>A MANE Select	ENSP00000354057.5:p.Ser87Asn
ENST00000328916.7:c.260G>A	ENSP00000328173.3:p.Ser87Asn
ENST00000360817.9:c.260G>A	ENSP00000354057.5:p.Ser87Asn
ENST00000402681.7:c.-242G>A	ENSP00000384171.3:n.-242G>A
ENST00000403949.5:c.260G>A	ENSP00000384464.1:p.Ser87Asn
ENST00000406697.5:c.260G>A	ENSP00000385035.1:p.Ser87Asn
ENST00000413211.5:c.260G>A	ENSP00000406643.1:p.Ser87Asn
ENST00000423384.5:c.260G>A	ENSP00000399892.1:p.Ser87Asn
ENST00000443875.5:c.334G>A
ENST00000541647.1:n.242G>A
ENST00000542978.1:c.-111+274G>A	ENSP00000442298.1:n.-111+274G>A
ENST00000617865.4:c.206G>A	ENSP00000484657.1:p.Ser69Asn
NM_001734.3:c.260G>A , LRG_25t1:c.260G>A	NP_001725.1:p.Ser87Asn
NM_201442.2:c.260G>A	NP_958850.1:p.Ser87Asn
XM_005253760.1:c.260G>A	XP_005253817.1:p.Ser87Asn
NM_001346850.1:c.-242G>A	NP_001333779.1:n.-242G>A
NM_001734.4:c.260G>A	NP_001725.1:p.Ser87Asn
NM_201442.3:c.260G>A	NP_958850.1:p.Ser87Asn
XM_005253760.2:c.260G>A	XP_005253817.1:p.Ser87Asn
NM_001734.5:c.260G>A MANE Select	NP_001725.1:p.Ser87Asn
NM_001346850.2:c.-242G>A	NP_001333779.1:n.-242G>A
NM_201442.4:c.260G>A	NP_958850.1:p.Ser87Asn