Canonical Allele Identifier: CA210748
Gene: SERPINC1 HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition antithrombin III deficiency
VCEP Thrombosis VCEP
MyVariant.info:
GRCh38 chr1:g.173914726G>A
GRCh37 chr1:g.173883864G>A
Revel Score:
ENST00000367698 (MANE Select) 0.743
ENST00000351522 0.743
gnomAD v2:
1:173883864 G / A
gnomAD v3:
1:173914726 G / A
gnomAD v4:
chr1-173914726-G-A
Joint Max Group AF 0.00015389 (EAS)
Genomes Max Group AF 0.00021494 (AMR)
Exomes Max Group AF 0.00017342 (EAS)
ClinVar RCV:
RCV000019620
ClinVar Variation:
18004
dbSNP:
121909547
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173914726G>A , CM000663.2:g.173914726G>A GRCh38
NC_000001.10:g.173883864G>A , CM000663.1:g.173883864G>A GRCh37
NC_000001.9:g.172150487G>A NCBI36
NG_012462.1:g.7653C>T , LRG_577:g.7653C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.235C>T MANE Select ENSP00000356671.3:p.Arg79Cys
ENST00000367698.3:c.235C>T ENSP00000356671.3:p.Arg79Cys
ENST00000494024.1:n.461C>T
ENST00000617423.4:c.235C>T ENSP00000478688.1:p.Arg79Cys
NM_000488.3:c.235C>T , LRG_577t1:c.235C>T NP_000479.1:p.Arg79Cys
XM_005245198.2:c.91C>T XP_005245255.1:p.Arg31Cys
NM_001365052.1:c.91C>T NP_001351981.1:p.Arg31Cys
NM_000488.4:c.235C>T MANE Select NP_000479.1:p.Arg79Cys
NM_001365052.2:c.91C>T NP_001351981.1:p.Arg31Cys
NM_001386302.1:c.235C>T NP_001373231.1:p.Arg79Cys
NM_001386303.1:c.316C>T NP_001373232.1:p.Arg106Cys
NM_001386304.1:c.235C>T NP_001373233.1:p.Arg79Cys
NM_001386305.1:c.235C>T NP_001373234.1:p.Arg79Cys
NM_001386306.1:c.235C>T NP_001373235.1:p.Arg79Cys
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