Canonical Allele Identifier: CA421821535
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2906231
ClinVar RCV Id: RCV003639142
gnomAD v4: 1-173904000-G-A
MyVariant Identifiers: chr1:g.173873138G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173904000G>A , CM000663.2:g.173904000G>A GRCh38
NC_000001.10:g.173873138G>A , CM000663.1:g.173873138G>A GRCh37
NC_000001.9:g.172139761G>A NCBI36
NG_012462.1:g.18379C>T , LRG_577:g.18379C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1284C>T MANE Select ENSP00000356671.3:p.Asn428=
ENST00000367698.3:c.1284C>T ENSP00000356671.3:p.Asn428=
ENST00000617423.4:c.669C>T ENSP00000478688.1:p.Asn223=
NM_000488.3:c.1284C>T , LRG_577t1:c.1284C>T NP_000479.1:p.Asn428=
XM_005245198.2:c.1140C>T XP_005245255.1:p.Asn380=
NM_001365052.1:c.1140C>T NP_001351981.1:p.Asn380=
NM_000488.4:c.1284C>T MANE Select NP_000479.1:p.Asn428=
NM_001365052.2:c.1140C>T NP_001351981.1:p.Asn380=
NM_001386302.1:c.1407C>T NP_001373231.1:p.Asn469=
NM_001386303.1:c.1365C>T NP_001373232.1:p.Asn455=
NM_001386304.1:c.1263C>T NP_001373233.1:p.Asn421=
NM_001386305.1:c.1227C>T NP_001373234.1:p.Asn409=
NM_001386306.1:c.1068C>T NP_001373235.1:p.Asn356=
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