Canonical Allele Identifier: CA1251402

Gene: SERPINC1

Linked Data

• dbSNP Id: rs773822689
• ExAC: 1:173881026 A / C
• gnomAD v2: 1-173881026-A-C
• gnomAD v4: 1-173911888-A-C
• MyVariant Identifiers: chr1:g.173881026A>C (hg19) ; chr1:g.173911888A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173911888A>C , CM000663.2:g.173911888A>C	GRCh38
NC_000001.10:g.173881026A>C , CM000663.1:g.173881026A>C	GRCh37
NC_000001.9:g.172147649A>C	NCBI36
NG_012462.1:g.10491T>G , LRG_577:g.10491T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.535T>G MANE Select	ENSP00000356671.3:p.Phe179Val
ENST00000367698.3:c.535T>G	ENSP00000356671.3:p.Phe179Val
ENST00000487183.1:n.240T>G
ENST00000617423.4:c.535T>G	ENSP00000478688.1:p.Phe179Val
NM_000488.3:c.535T>G , LRG_577t1:c.535T>G	NP_000479.1:p.Phe179Val
XM_005245198.2:c.391T>G	XP_005245255.1:p.Phe131Val
NM_001365052.1:c.391T>G	NP_001351981.1:p.Phe131Val
NM_000488.4:c.535T>G MANE Select	NP_000479.1:p.Phe179Val
NM_001365052.2:c.391T>G	NP_001351981.1:p.Phe131Val
NM_001386302.1:c.535T>G	NP_001373231.1:p.Phe179Val
NM_001386303.1:c.616T>G	NP_001373232.1:p.Phe206Val
NM_001386304.1:c.535T>G	NP_001373233.1:p.Phe179Val
NM_001386305.1:c.535T>G	NP_001373234.1:p.Phe179Val
NM_001386306.1:c.409-997T>G	NP_001373235.1:n.409-997T>G