Canonical Allele Identifier: CA232457023

Gene: C1S

Linked Data

• ClinVar Variation Id: 1918595
• ClinVar RCV Id: RCV002630089
• dbSNP Id: rs754588470
• gnomAD v2: 12-7177397-C-T
• gnomAD v3: 12-7070093-C-T
• gnomAD v4: 12-7070093-C-T
• MyVariant Identifiers: chr12:g.7177397C>T (hg19) ; chr12:g.7070093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7070093C>T , CM000674.2:g.7070093C>T	GRCh38
NC_000012.11:g.7177397C>T , CM000674.1:g.7177397C>T	GRCh37
NC_000012.10:g.7047658C>T	NCBI36
NG_011694.1:g.14418C>T , LRG_25:g.14418C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000473545.2:n.4245C>T
ENST00000488701.2:n.2026C>T
ENST00000495053.2:n.3585C>T
ENST00000698563.1:n.4888C>T
ENST00000698564.1:n.3335C>T
ENST00000698565.1:n.3444C>T
ENST00000360817.10:c.1509C>T MANE Select	ENSP00000354057.5:p.Leu503=
ENST00000328916.7:c.1509C>T	ENSP00000328173.3:p.Leu503=
ENST00000360817.9:c.1509C>T	ENSP00000354057.5:p.Leu503=
ENST00000402681.7:c.1008C>T	ENSP00000384171.3:p.Leu336=
ENST00000406697.5:c.1509C>T	ENSP00000385035.1:p.Leu503=
ENST00000443875.5:c.1613C>T
ENST00000461983.5:n.930C>T
ENST00000495061.5:n.685C>T
ENST00000617865.4:c.1491C>T	ENSP00000484657.1:p.Leu497=
NM_001734.3:c.1509C>T , LRG_25t1:c.1509C>T	NP_001725.1:p.Leu503=
NM_201442.2:c.1509C>T	NP_958850.1:p.Leu503=
XM_005253760.1:c.1509C>T	XP_005253817.1:p.Leu503=
NM_001346850.1:c.1008C>T	NP_001333779.1:p.Leu336=
NM_001734.4:c.1509C>T	NP_001725.1:p.Leu503=
NM_201442.3:c.1509C>T	NP_958850.1:p.Leu503=
XM_005253760.2:c.1509C>T	XP_005253817.1:p.Leu503=
NM_001734.5:c.1509C>T MANE Select	NP_001725.1:p.Leu503=
NM_001346850.2:c.1008C>T	NP_001333779.1:p.Leu336=
NM_201442.4:c.1509C>T	NP_958850.1:p.Leu503=