Canonical Allele Identifier: CA343772621

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1417243660
• gnomAD v2: 1-173873163-A-G
• gnomAD v4: 1-173904025-A-G
• MyVariant Identifiers: chr1:g.173873163A>G (hg19) ; chr1:g.173904025A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173904025A>G , CM000663.2:g.173904025A>G	GRCh38
NC_000001.10:g.173873163A>G , CM000663.1:g.173873163A>G	GRCh37
NC_000001.9:g.172139786A>G	NCBI36
NG_012462.1:g.18354T>C , LRG_577:g.18354T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1259T>C MANE Select	ENSP00000356671.3:p.Val420Ala
ENST00000367698.3:c.1259T>C	ENSP00000356671.3:p.Val420Ala
ENST00000617423.4:c.644T>C	ENSP00000478688.1:p.Val215Ala
NM_000488.3:c.1259T>C , LRG_577t1:c.1259T>C	NP_000479.1:p.Val420Ala
XM_005245198.2:c.1115T>C	XP_005245255.1:p.Val372Ala
NM_001365052.1:c.1115T>C	NP_001351981.1:p.Val372Ala
NM_000488.4:c.1259T>C MANE Select	NP_000479.1:p.Val420Ala
NM_001365052.2:c.1115T>C	NP_001351981.1:p.Val372Ala
NM_001386302.1:c.1382T>C	NP_001373231.1:p.Val461Ala
NM_001386303.1:c.1340T>C	NP_001373232.1:p.Val447Ala
NM_001386304.1:c.1238T>C	NP_001373233.1:p.Val413Ala
NM_001386305.1:c.1202T>C	NP_001373234.1:p.Val401Ala
NM_001386306.1:c.1043T>C	NP_001373235.1:p.Val348Ala