Canonical Allele Identifier: CA343772542

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 2914566
• ClinVar RCV Id: RCV003639259
• gnomAD v4: 1-173904000-G-C
• MyVariant Identifiers: chr1:g.173873138G>C (hg19) ; chr1:g.173904000G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173904000G>C , CM000663.2:g.173904000G>C	GRCh38
NC_000001.10:g.173873138G>C , CM000663.1:g.173873138G>C	GRCh37
NC_000001.9:g.172139761G>C	NCBI36
NG_012462.1:g.18379C>G , LRG_577:g.18379C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1284C>G MANE Select	ENSP00000356671.3:p.Asn428Lys
ENST00000367698.3:c.1284C>G	ENSP00000356671.3:p.Asn428Lys
ENST00000617423.4:c.669C>G	ENSP00000478688.1:p.Asn223Lys
NM_000488.3:c.1284C>G , LRG_577t1:c.1284C>G	NP_000479.1:p.Asn428Lys
XM_005245198.2:c.1140C>G	XP_005245255.1:p.Asn380Lys
NM_001365052.1:c.1140C>G	NP_001351981.1:p.Asn380Lys
NM_000488.4:c.1284C>G MANE Select	NP_000479.1:p.Asn428Lys
NM_001365052.2:c.1140C>G	NP_001351981.1:p.Asn380Lys
NM_001386302.1:c.1407C>G	NP_001373231.1:p.Asn469Lys
NM_001386303.1:c.1365C>G	NP_001373232.1:p.Asn455Lys
NM_001386304.1:c.1263C>G	NP_001373233.1:p.Asn421Lys
NM_001386305.1:c.1227C>G	NP_001373234.1:p.Asn409Lys
NM_001386306.1:c.1068C>G	NP_001373235.1:p.Asn356Lys