Canonical Allele Identifier: CA421821515

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1345506740
• gnomAD v2: 1-173873126-C-T
• gnomAD v4: 1-173903988-C-T
• MyVariant Identifiers: chr1:g.173873126C>T (hg19) ; chr1:g.173903988C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903988C>T , CM000663.2:g.173903988C>T	GRCh38
NC_000001.10:g.173873126C>T , CM000663.1:g.173873126C>T	GRCh37
NC_000001.9:g.172139749C>T	NCBI36
NG_012462.1:g.18391G>A , LRG_577:g.18391G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1296G>A MANE Select	ENSP00000356671.3:p.Val432=
ENST00000367698.3:c.1296G>A	ENSP00000356671.3:p.Val432=
ENST00000617423.4:c.681G>A	ENSP00000478688.1:p.Val227=
NM_000488.3:c.1296G>A , LRG_577t1:c.1296G>A	NP_000479.1:p.Val432=
XM_005245198.2:c.1152G>A	XP_005245255.1:p.Val384=
NM_001365052.1:c.1152G>A	NP_001351981.1:p.Val384=
NM_000488.4:c.1296G>A MANE Select	NP_000479.1:p.Val432=
NM_001365052.2:c.1152G>A	NP_001351981.1:p.Val384=
NM_001386302.1:c.1419G>A	NP_001373231.1:p.Val473=
NM_001386303.1:c.1377G>A	NP_001373232.1:p.Val459=
NM_001386304.1:c.1275G>A	NP_001373233.1:p.Val425=
NM_001386305.1:c.1239G>A	NP_001373234.1:p.Val413=
NM_001386306.1:c.1080G>A	NP_001373235.1:p.Val360=