Canonical Allele Identifier: CA211880

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 18023
• ClinVar RCV Id: RCV000019639 ; RCV000249153 ; RCV000857698
• dbSNP Id: rs121909548
• ExAC: 1:173873176 C / A
• gnomAD v2: 1-173873176-C-A
• gnomAD v3: 1-173904038-C-A
• gnomAD v4: 1-173904038-C-A
• MyVariant Identifiers: chr1:g.173873176C>A (hg19) ; chr1:g.173904038C>A (hg38)
• PubMed: PMID:1906811 ; PMID:2012760

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173904038C>A , CM000663.2:g.173904038C>A	GRCh38
NC_000001.10:g.173873176C>A , CM000663.1:g.173873176C>A	GRCh37
NC_000001.9:g.172139799C>A	NCBI36
NG_012462.1:g.18341G>T , LRG_577:g.18341G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1246G>T MANE Select	ENSP00000356671.3:p.Ala416Ser
ENST00000367698.3:c.1246G>T	ENSP00000356671.3:p.Ala416Ser
ENST00000617423.4:c.631G>T	ENSP00000478688.1:p.Ala211Ser
NM_000488.3:c.1246G>T , LRG_577t1:c.1246G>T	NP_000479.1:p.Ala416Ser
XM_005245198.2:c.1102G>T	XP_005245255.1:p.Ala368Ser
NM_001365052.1:c.1102G>T	NP_001351981.1:p.Ala368Ser
NM_000488.4:c.1246G>T MANE Select	NP_000479.1:p.Ala416Ser
NM_001365052.2:c.1102G>T	NP_001351981.1:p.Ala368Ser
NM_001386302.1:c.1369G>T	NP_001373231.1:p.Ala457Ser
NM_001386303.1:c.1327G>T	NP_001373232.1:p.Ala443Ser
NM_001386304.1:c.1225G>T	NP_001373233.1:p.Ala409Ser
NM_001386305.1:c.1189G>T	NP_001373234.1:p.Ala397Ser
NM_001386306.1:c.1030G>T	NP_001373235.1:p.Ala344Ser