Canonical Allele Identifier: CA343772062
Gene: SERPINC1 HGNC NCBI

Linked Data

gnomAD v4: 1-173903908-G-A
MyVariant Identifiers: chr1:g.173873046G>A (hg19) chr1:g.173903908G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903908G>A , CM000663.2:g.173903908G>A GRCh38
NC_000001.10:g.173873046G>A , CM000663.1:g.173873046G>A GRCh37
NC_000001.9:g.172139669G>A NCBI36
NG_012462.1:g.18471C>T , LRG_577:g.18471C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1376C>T MANE Select ENSP00000356671.3:p.Ala459Val
ENST00000367698.3:c.1376C>T ENSP00000356671.3:p.Ala459Val
ENST00000617423.4:c.761C>T ENSP00000478688.1:p.Ala254Val
NM_000488.3:c.1376C>T , LRG_577t1:c.1376C>T NP_000479.1:p.Ala459Val
XM_005245198.2:c.1232C>T XP_005245255.1:p.Ala411Val
NM_001365052.1:c.1232C>T NP_001351981.1:p.Ala411Val
NM_000488.4:c.1376C>T MANE Select NP_000479.1:p.Ala459Val
NM_001365052.2:c.1232C>T NP_001351981.1:p.Ala411Val
NM_001386302.1:c.1499C>T NP_001373231.1:p.Ala500Val
NM_001386303.1:c.1457C>T NP_001373232.1:p.Ala486Val
NM_001386304.1:c.1355C>T NP_001373233.1:p.Ala452Val
NM_001386305.1:c.1319C>T NP_001373234.1:p.Ala440Val
NM_001386306.1:c.1160C>T NP_001373235.1:p.Ala387Val
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