Canonical Allele Identifier: CA343772133

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1359392415
• gnomAD v3: 1-173903923-A-C
• gnomAD v4: 1-173903923-A-C
• MyVariant Identifiers: chr1:g.173873061A>C (hg19) ; chr1:g.173903923A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903923A>C , CM000663.2:g.173903923A>C	GRCh38
NC_000001.10:g.173873061A>C , CM000663.1:g.173873061A>C	GRCh37
NC_000001.9:g.172139684A>C	NCBI36
NG_012462.1:g.18456T>G , LRG_577:g.18456T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1361T>G MANE Select	ENSP00000356671.3:p.Phe454Cys
ENST00000367698.3:c.1361T>G	ENSP00000356671.3:p.Phe454Cys
ENST00000617423.4:c.746T>G	ENSP00000478688.1:p.Phe249Cys
NM_000488.3:c.1361T>G , LRG_577t1:c.1361T>G	NP_000479.1:p.Phe454Cys
XM_005245198.2:c.1217T>G	XP_005245255.1:p.Phe406Cys
NM_001365052.1:c.1217T>G	NP_001351981.1:p.Phe406Cys
NM_000488.4:c.1361T>G MANE Select	NP_000479.1:p.Phe454Cys
NM_001365052.2:c.1217T>G	NP_001351981.1:p.Phe406Cys
NM_001386302.1:c.1484T>G	NP_001373231.1:p.Phe495Cys
NM_001386303.1:c.1442T>G	NP_001373232.1:p.Phe481Cys
NM_001386304.1:c.1340T>G	NP_001373233.1:p.Phe447Cys
NM_001386305.1:c.1304T>G	NP_001373234.1:p.Phe435Cys
NM_001386306.1:c.1145T>G	NP_001373235.1:p.Phe382Cys