Canonical Allele Identifier: CA343772007
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1708455
ClinVar RCV Id: RCV002287828

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903896A>G , CM000663.2:g.173903896A>G GRCh38
NC_000001.10:g.173873034A>G , CM000663.1:g.173873034A>G GRCh37
NC_000001.9:g.172139657A>G NCBI36
NG_012462.1:g.18483T>C , LRG_577:g.18483T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367698.4:c.1388T>C MANE Select ENSP00000356671.3:p.Val463Ala
ENST00000367698.3:c.1388T>C ENSP00000356671.3:p.Val463Ala
ENST00000617423.4:c.773T>C ENSP00000478688.1:p.Val258Ala
NM_000488.3:c.1388T>C , LRG_577t1:c.1388T>C NP_000479.1:p.Val463Ala
XM_005245198.2:c.1244T>C XP_005245255.1:p.Val415Ala
NM_001365052.1:c.1244T>C NP_001351981.1:p.Val415Ala
NM_000488.4:c.1388T>C MANE Select NP_000479.1:p.Val463Ala
NM_001365052.2:c.1244T>C NP_001351981.1:p.Val415Ala
NM_001386302.1:c.1511T>C NP_001373231.1:p.Val504Ala
NM_001386303.1:c.1469T>C NP_001373232.1:p.Val490Ala
NM_001386304.1:c.1367T>C NP_001373233.1:p.Val456Ala
NM_001386305.1:c.1331T>C NP_001373234.1:p.Val444Ala
NM_001386306.1:c.1172T>C NP_001373235.1:p.Val391Ala