Canonical Allele Identifier: CA210766

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 18019
• ClinVar RCV Id: RCV000019635
• dbSNP Id: rs121909549
• gnomAD v2: 1-173873148-C-T
• MyVariant Identifiers: chr1:g.173873148C>T (hg19) ; chr1:g.173904010C>T (hg38)
• ERepo: CA210766/MONDO:0013144/084
• PubMed: PMID:2794060 ; PMID:2917133 ; PMID:3162733 ; PMID:3238650 ; PMID:3360140 ; PMID:3580302

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173904010C>T , CM000663.2:g.173904010C>T	GRCh38
NC_000001.10:g.173873148C>T , CM000663.1:g.173873148C>T	GRCh37
NC_000001.9:g.172139771C>T	NCBI36
NG_012462.1:g.18369G>A , LRG_577:g.18369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1274G>A MANE Select	ENSP00000356671.3:p.Arg425His
ENST00000367698.3:c.1274G>A	ENSP00000356671.3:p.Arg425His
ENST00000617423.4:c.659G>A	ENSP00000478688.1:p.Arg220His
NM_000488.3:c.1274G>A , LRG_577t1:c.1274G>A	NP_000479.1:p.Arg425His
XM_005245198.2:c.1130G>A	XP_005245255.1:p.Arg377His
NM_001365052.1:c.1130G>A	NP_001351981.1:p.Arg377His
NM_000488.4:c.1274G>A MANE Select	NP_000479.1:p.Arg425His
NM_001365052.2:c.1130G>A	NP_001351981.1:p.Arg377His
NM_001386302.1:c.1397G>A	NP_001373231.1:p.Arg466His
NM_001386303.1:c.1355G>A	NP_001373232.1:p.Arg452His
NM_001386304.1:c.1253G>A	NP_001373233.1:p.Arg418His
NM_001386305.1:c.1217G>A	NP_001373234.1:p.Arg406His
NM_001386306.1:c.1058G>A	NP_001373235.1:p.Arg353His