Canonical Allele Identifier: CA343773529

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 2664808
• ClinVar RCV Id: RCV003447783
• gnomAD v4: 1-173909584-T-C
• MyVariant Identifiers: chr1:g.173878722T>C (hg19) ; chr1:g.173909584T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909584T>C , CM000663.2:g.173909584T>C	GRCh38
NC_000001.10:g.173878722T>C , CM000663.1:g.173878722T>C	GRCh37
NC_000001.9:g.172145345T>C	NCBI36
NG_012462.1:g.12795A>G , LRG_577:g.12795A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1121A>G MANE Select	ENSP00000356671.3:p.Asp374Gly
ENST00000367698.3:c.1121A>G	ENSP00000356671.3:p.Asp374Gly
ENST00000617423.4:c.560-2091A>G	ENSP00000478688.1:n.560-2091A>G
NM_000488.3:c.1121A>G , LRG_577t1:c.1121A>G	NP_000479.1:p.Asp374Gly
XM_005245198.2:c.977A>G	XP_005245255.1:p.Asp326Gly
NM_001365052.1:c.977A>G	NP_001351981.1:p.Asp326Gly
NM_000488.4:c.1121A>G MANE Select	NP_000479.1:p.Asp374Gly
NM_001365052.2:c.977A>G	NP_001351981.1:p.Asp326Gly
NM_001386302.1:c.1244A>G	NP_001373231.1:p.Asp415Gly
NM_001386303.1:c.1202A>G	NP_001373232.1:p.Asp401Gly
NM_001386304.1:c.1100A>G	NP_001373233.1:p.Asp367Gly
NM_001386305.1:c.1064A>G	NP_001373234.1:p.Asp355Gly
NM_001386306.1:c.905A>G	NP_001373235.1:p.Asp302Gly