Canonical Allele Identifier: CA343772622

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173873164C>A (hg19) ; chr1:g.173904026C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173904026C>A , CM000663.2:g.173904026C>A	GRCh38
NC_000001.10:g.173873164C>A , CM000663.1:g.173873164C>A	GRCh37
NC_000001.9:g.172139787C>A	NCBI36
NG_012462.1:g.18353G>T , LRG_577:g.18353G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1258G>T MANE Select	ENSP00000356671.3:p.Val420Phe
ENST00000367698.3:c.1258G>T	ENSP00000356671.3:p.Val420Phe
ENST00000617423.4:c.643G>T	ENSP00000478688.1:p.Val215Phe
NM_000488.3:c.1258G>T , LRG_577t1:c.1258G>T	NP_000479.1:p.Val420Phe
XM_005245198.2:c.1114G>T	XP_005245255.1:p.Val372Phe
NM_001365052.1:c.1114G>T	NP_001351981.1:p.Val372Phe
NM_000488.4:c.1258G>T MANE Select	NP_000479.1:p.Val420Phe
NM_001365052.2:c.1114G>T	NP_001351981.1:p.Val372Phe
NM_001386302.1:c.1381G>T	NP_001373231.1:p.Val461Phe
NM_001386303.1:c.1339G>T	NP_001373232.1:p.Val447Phe
NM_001386304.1:c.1237G>T	NP_001373233.1:p.Val413Phe
NM_001386305.1:c.1201G>T	NP_001373234.1:p.Val401Phe
NM_001386306.1:c.1042G>T	NP_001373235.1:p.Val348Phe