Canonical Allele Identifier: CA343777713

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 2418854
• ClinVar RCV Id: RCV003112098
• MyVariant Identifiers: chr1:g.173883830A>C (hg19) ; chr1:g.173914692A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173914692A>C , CM000663.2:g.173914692A>C	GRCh38
NC_000001.10:g.173883830A>C , CM000663.1:g.173883830A>C	GRCh37
NC_000001.9:g.172150453A>C	NCBI36
NG_012462.1:g.7687T>G , LRG_577:g.7687T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.269T>G MANE Select	ENSP00000356671.3:p.Phe90Cys
ENST00000367698.3:c.269T>G	ENSP00000356671.3:p.Phe90Cys
ENST00000494024.1:n.495T>G
ENST00000617423.4:c.269T>G	ENSP00000478688.1:p.Phe90Cys
NM_000488.3:c.269T>G , LRG_577t1:c.269T>G	NP_000479.1:p.Phe90Cys
XM_005245198.2:c.125T>G	XP_005245255.1:p.Phe42Cys
NM_001365052.1:c.125T>G	NP_001351981.1:p.Phe42Cys
NM_000488.4:c.269T>G MANE Select	NP_000479.1:p.Phe90Cys
NM_001365052.2:c.125T>G	NP_001351981.1:p.Phe42Cys
NM_001386302.1:c.269T>G	NP_001373231.1:p.Phe90Cys
NM_001386303.1:c.350T>G	NP_001373232.1:p.Phe117Cys
NM_001386304.1:c.269T>G	NP_001373233.1:p.Phe90Cys
NM_001386305.1:c.269T>G	NP_001373234.1:p.Phe90Cys
NM_001386306.1:c.269T>G	NP_001373235.1:p.Phe90Cys