Canonical Allele Identifier: CA421942917

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1190134730
• gnomAD v2: 1-173878825-G-A
• COSMIC: COSM677072
• MyVariant Identifiers: chr1:g.173878825G>A (hg19) ; chr1:g.173909687G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909687G>A , CM000663.2:g.173909687G>A	GRCh38
NC_000001.10:g.173878825G>A , CM000663.1:g.173878825G>A	GRCh37
NC_000001.9:g.172145448G>A	NCBI36
NG_012462.1:g.12692C>T , LRG_577:g.12692C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1018C>T MANE Select	ENSP00000356671.3:p.Leu340=
ENST00000367698.3:c.1018C>T	ENSP00000356671.3:p.Leu340=
ENST00000617423.4:c.559+2177C>T	ENSP00000478688.1:n.559+2177C>T
NM_000488.3:c.1018C>T , LRG_577t1:c.1018C>T	NP_000479.1:p.Leu340=
XM_005245198.2:c.874C>T	XP_005245255.1:p.Leu292=
NM_001365052.1:c.874C>T	NP_001351981.1:p.Leu292=
NM_000488.4:c.1018C>T MANE Select	NP_000479.1:p.Leu340=
NM_001365052.2:c.874C>T	NP_001351981.1:p.Leu292=
NM_001386302.1:c.1141C>T	NP_001373231.1:p.Leu381=
NM_001386303.1:c.1099C>T	NP_001373232.1:p.Leu367=
NM_001386304.1:c.997C>T	NP_001373233.1:p.Leu333=
NM_001386305.1:c.961C>T	NP_001373234.1:p.Leu321=
NM_001386306.1:c.802C>T	NP_001373235.1:p.Leu268=