Canonical Allele Identifier: CA343774235

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 2911303
• ClinVar RCV Id: RCV003639205
• gnomAD v4: 1-173909780-C-T
• MyVariant Identifiers: chr1:g.173878918C>T (hg19) ; chr1:g.173909780C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909780C>T , CM000663.2:g.173909780C>T	GRCh38
NC_000001.10:g.173878918C>T , CM000663.1:g.173878918C>T	GRCh37
NC_000001.9:g.172145541C>T	NCBI36
NG_012462.1:g.12599G>A , LRG_577:g.12599G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.925G>A MANE Select	ENSP00000356671.3:p.Asp309Asn
ENST00000367698.3:c.925G>A	ENSP00000356671.3:p.Asp309Asn
ENST00000487183.1:n.576G>A
ENST00000617423.4:c.559+2084G>A	ENSP00000478688.1:n.559+2084G>A
NM_000488.3:c.925G>A , LRG_577t1:c.925G>A	NP_000479.1:p.Asp309Asn
XM_005245198.2:c.781G>A	XP_005245255.1:p.Asp261Asn
NM_001365052.1:c.781G>A	NP_001351981.1:p.Asp261Asn
NM_000488.4:c.925G>A MANE Select	NP_000479.1:p.Asp309Asn
NM_001365052.2:c.781G>A	NP_001351981.1:p.Asp261Asn
NM_001386302.1:c.1048G>A	NP_001373231.1:p.Asp350Asn
NM_001386303.1:c.1006G>A	NP_001373232.1:p.Asp336Asn
NM_001386304.1:c.904G>A	NP_001373233.1:p.Asp302Asn
NM_001386305.1:c.868G>A	NP_001373234.1:p.Asp290Asn
NM_001386306.1:c.709G>A	NP_001373235.1:p.Asp237Asn