Canonical Allele Identifier: CA32780255

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 2178499
• ClinVar RCV Id: RCV002588637 ; RCV002595569
• dbSNP Id: rs960126155
• gnomAD v4: 1-173909654-G-A
• MyVariant Identifiers: chr1:g.173878792G>A (hg19) ; chr1:g.173909654G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909654G>A , CM000663.2:g.173909654G>A	GRCh38
NC_000001.10:g.173878792G>A , CM000663.1:g.173878792G>A	GRCh37
NC_000001.9:g.172145415G>A	NCBI36
NG_012462.1:g.12725C>T , LRG_577:g.12725C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1051C>T MANE Select	ENSP00000356671.3:p.His351Tyr
ENST00000367698.3:c.1051C>T	ENSP00000356671.3:p.His351Tyr
ENST00000617423.4:c.560-2161C>T	ENSP00000478688.1:n.560-2161C>T
NM_000488.3:c.1051C>T , LRG_577t1:c.1051C>T	NP_000479.1:p.His351Tyr
XM_005245198.2:c.907C>T	XP_005245255.1:p.His303Tyr
NM_001365052.1:c.907C>T	NP_001351981.1:p.His303Tyr
NM_000488.4:c.1051C>T MANE Select	NP_000479.1:p.His351Tyr
NM_001365052.2:c.907C>T	NP_001351981.1:p.His303Tyr
NM_001386302.1:c.1174C>T	NP_001373231.1:p.His392Tyr
NM_001386303.1:c.1132C>T	NP_001373232.1:p.His378Tyr
NM_001386304.1:c.1030C>T	NP_001373233.1:p.His344Tyr
NM_001386305.1:c.994C>T	NP_001373234.1:p.His332Tyr
NM_001386306.1:c.835C>T	NP_001373235.1:p.His279Tyr