Canonical Allele Identifier: CA343772459

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1303385277
• gnomAD v2: 1-173873122-A-C
• MyVariant Identifiers: chr1:g.173873122A>C (hg19) ; chr1:g.173903984A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903984A>C , CM000663.2:g.173903984A>C	GRCh38
NC_000001.10:g.173873122A>C , CM000663.1:g.173873122A>C	GRCh37
NC_000001.9:g.172139745A>C	NCBI36
NG_012462.1:g.18395T>G , LRG_577:g.18395T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1300T>G MANE Select	ENSP00000356671.3:p.Phe434Val
ENST00000367698.3:c.1300T>G	ENSP00000356671.3:p.Phe434Val
ENST00000617423.4:c.685T>G	ENSP00000478688.1:p.Phe229Val
NM_000488.3:c.1300T>G , LRG_577t1:c.1300T>G	NP_000479.1:p.Phe434Val
XM_005245198.2:c.1156T>G	XP_005245255.1:p.Phe386Val
NM_001365052.1:c.1156T>G	NP_001351981.1:p.Phe386Val
NM_000488.4:c.1300T>G MANE Select	NP_000479.1:p.Phe434Val
NM_001365052.2:c.1156T>G	NP_001351981.1:p.Phe386Val
NM_001386302.1:c.1423T>G	NP_001373231.1:p.Phe475Val
NM_001386303.1:c.1381T>G	NP_001373232.1:p.Phe461Val
NM_001386304.1:c.1279T>G	NP_001373233.1:p.Phe427Val
NM_001386305.1:c.1243T>G	NP_001373234.1:p.Phe415Val
NM_001386306.1:c.1084T>G	NP_001373235.1:p.Phe362Val