Canonical Allele Identifier: CA343772704

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1657380449
• gnomAD v4: 1-173904065-C-T
• MyVariant Identifiers: chr1:g.173873203C>T (hg19) ; chr1:g.173904065C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173904065C>T , CM000663.2:g.173904065C>T	GRCh38
NC_000001.10:g.173873203C>T , CM000663.1:g.173873203C>T	GRCh37
NC_000001.9:g.172139826C>T	NCBI36
NG_012462.1:g.18314G>A , LRG_577:g.18314G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1219G>A MANE Select	ENSP00000356671.3:p.Val407Ile
ENST00000367698.3:c.1219G>A	ENSP00000356671.3:p.Val407Ile
ENST00000617423.4:c.604G>A	ENSP00000478688.1:p.Val202Ile
NM_000488.3:c.1219G>A , LRG_577t1:c.1219G>A	NP_000479.1:p.Val407Ile
XM_005245198.2:c.1075G>A	XP_005245255.1:p.Val359Ile
NM_001365052.1:c.1075G>A	NP_001351981.1:p.Val359Ile
NM_000488.4:c.1219G>A MANE Select	NP_000479.1:p.Val407Ile
NM_001365052.2:c.1075G>A	NP_001351981.1:p.Val359Ile
NM_001386302.1:c.1342G>A	NP_001373231.1:p.Val448Ile
NM_001386303.1:c.1300G>A	NP_001373232.1:p.Val434Ile
NM_001386304.1:c.1198G>A	NP_001373233.1:p.Val400Ile
NM_001386305.1:c.1162G>A	NP_001373234.1:p.Val388Ile
NM_001386306.1:c.1003G>A	NP_001373235.1:p.Val335Ile