Canonical Allele Identifier: CA343772451
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 627224
ClinVar RCV Id: RCV000852011
dbSNP Id: rs1572084546
MyVariant Identifiers: chr1:g.173873121A>C (hg19) chr1:g.173903983A>C (hg38)
ERepo: CA343772451/MONDO:0013144/084
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903983A>C , CM000663.2:g.173903983A>C GRCh38
NC_000001.10:g.173873121A>C , CM000663.1:g.173873121A>C GRCh37
NC_000001.9:g.172139744A>C NCBI36
NG_012462.1:g.18396T>G , LRG_577:g.18396T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1301T>G MANE Select ENSP00000356671.3:p.Phe434Cys
ENST00000367698.3:c.1301T>G ENSP00000356671.3:p.Phe434Cys
ENST00000617423.4:c.686T>G ENSP00000478688.1:p.Phe229Cys
NM_000488.3:c.1301T>G , LRG_577t1:c.1301T>G NP_000479.1:p.Phe434Cys
XM_005245198.2:c.1157T>G XP_005245255.1:p.Phe386Cys
NM_001365052.1:c.1157T>G NP_001351981.1:p.Phe386Cys
NM_000488.4:c.1301T>G MANE Select NP_000479.1:p.Phe434Cys
NM_001365052.2:c.1157T>G NP_001351981.1:p.Phe386Cys
NM_001386302.1:c.1424T>G NP_001373231.1:p.Phe475Cys
NM_001386303.1:c.1382T>G NP_001373232.1:p.Phe461Cys
NM_001386304.1:c.1280T>G NP_001373233.1:p.Phe427Cys
NM_001386305.1:c.1244T>G NP_001373234.1:p.Phe415Cys
NM_001386306.1:c.1085T>G NP_001373235.1:p.Phe362Cys
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