Canonical Allele Identifier: CA1251399

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 1117078
• ClinVar RCV Id: RCV001445659
• dbSNP Id: rs781696456
• ExAC: 1:173880975 A / G
• gnomAD v2: 1-173880975-A-G
• gnomAD v3: 1-173911837-A-G
• gnomAD v4: 1-173911837-A-G
• MyVariant Identifiers: chr1:g.173880975A>G (hg19) ; chr1:g.173911837A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173911837A>G , CM000663.2:g.173911837A>G	GRCh38
NC_000001.10:g.173880975A>G , CM000663.1:g.173880975A>G	GRCh37
NC_000001.9:g.172147598A>G	NCBI36
NG_012462.1:g.10542T>C , LRG_577:g.10542T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.586T>C MANE Select	ENSP00000356671.3:p.Leu196=
ENST00000367698.3:c.586T>C	ENSP00000356671.3:p.Leu196=
ENST00000487183.1:n.291T>C
ENST00000617423.4:c.559+27T>C	ENSP00000478688.1:n.559+27T>C
NM_000488.3:c.586T>C , LRG_577t1:c.586T>C	NP_000479.1:p.Leu196=
XM_005245198.2:c.442T>C	XP_005245255.1:p.Leu148=
NM_001365052.1:c.442T>C	NP_001351981.1:p.Leu148=
NM_000488.4:c.586T>C MANE Select	NP_000479.1:p.Leu196=
NM_001365052.2:c.442T>C	NP_001351981.1:p.Leu148=
NM_001386302.1:c.586T>C	NP_001373231.1:p.Leu196=
NM_001386303.1:c.667T>C	NP_001373232.1:p.Leu223=
NM_001386304.1:c.586T>C	NP_001373233.1:p.Leu196=
NM_001386305.1:c.586T>C	NP_001373234.1:p.Leu196=
NM_001386306.1:c.409-946T>C	NP_001373235.1:n.409-946T>C