Canonical Allele Identifier: CA343772167

Gene: SERPINC1

Linked Data

• gnomAD v4: 1-173903930-T-C
• COSMIC: COSM4725060
• MyVariant Identifiers: chr1:g.173873068T>C (hg19) ; chr1:g.173903930T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903930T>C , CM000663.2:g.173903930T>C	GRCh38
NC_000001.10:g.173873068T>C , CM000663.1:g.173873068T>C	GRCh37
NC_000001.9:g.172139691T>C	NCBI36
NG_012462.1:g.18449A>G , LRG_577:g.18449A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1354A>G MANE Select	ENSP00000356671.3:p.Ile452Val
ENST00000367698.3:c.1354A>G	ENSP00000356671.3:p.Ile452Val
ENST00000617423.4:c.739A>G	ENSP00000478688.1:p.Ile247Val
NM_000488.3:c.1354A>G , LRG_577t1:c.1354A>G	NP_000479.1:p.Ile452Val
XM_005245198.2:c.1210A>G	XP_005245255.1:p.Ile404Val
NM_001365052.1:c.1210A>G	NP_001351981.1:p.Ile404Val
NM_000488.4:c.1354A>G MANE Select	NP_000479.1:p.Ile452Val
NM_001365052.2:c.1210A>G	NP_001351981.1:p.Ile404Val
NM_001386302.1:c.1477A>G	NP_001373231.1:p.Ile493Val
NM_001386303.1:c.1435A>G	NP_001373232.1:p.Ile479Val
NM_001386304.1:c.1333A>G	NP_001373233.1:p.Ile445Val
NM_001386305.1:c.1297A>G	NP_001373234.1:p.Ile433Val
NM_001386306.1:c.1138A>G	NP_001373235.1:p.Ile380Val