Canonical Allele Identifier: CA913184807
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18026
ClinVar RCV Id: RCV000019642
dbSNP Id: rs1572088837
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909928dup , CM000663.2:g.173909928dup GRCh38
NC_000001.10:g.173879066dup , CM000663.1:g.173879066dup GRCh37
NC_000001.9:g.172145689dup NCBI36
NG_012462.1:g.12453dup , LRG_577:g.12453dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.779dup MANE Select ENSP00000356671.3:p.Phe261ValfsTer4
ENST00000367698.3:c.779dup ENSP00000356671.3:p.Phe261ValfsTer4
ENST00000487183.1:n.430dup
ENST00000617423.4:c.559+1938dup ENSP00000478688.1:n.559+1938dup
NM_000488.3:c.779dup , LRG_577t1:c.779dup NP_000479.1:p.Phe261ValfsTer4
XM_005245198.2:c.635dup XP_005245255.1:p.Phe213ValfsTer4
NM_001365052.1:c.635dup NP_001351981.1:p.Phe213ValfsTer4
NM_000488.4:c.779dup MANE Select NP_000479.1:p.Phe261ValfsTer4
NM_001365052.2:c.635dup NP_001351981.1:p.Phe213ValfsTer4
NM_001386302.1:c.902dup NP_001373231.1:p.Phe302ValfsTer4
NM_001386303.1:c.860dup NP_001373232.1:p.Phe288ValfsTer4
NM_001386304.1:c.758dup NP_001373233.1:p.Phe254ValfsTer4
NM_001386305.1:c.763-41dup NP_001373234.1:n.763-41dup
NM_001386306.1:c.563dup NP_001373235.1:p.Phe189ValfsTer4
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