Canonical Allele Identifier: CA343773577

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 850710
• ClinVar RCV Id: RCV001054938
• dbSNP Id: rs1657673747
• MyVariant Identifiers: chr1:g.173878744G>C (hg19) ; chr1:g.173909606G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909606G>C , CM000663.2:g.173909606G>C	GRCh38
NC_000001.10:g.173878744G>C , CM000663.1:g.173878744G>C	GRCh37
NC_000001.9:g.172145367G>C	NCBI36
NG_012462.1:g.12773C>G , LRG_577:g.12773C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1099C>G MANE Select	ENSP00000356671.3:p.Leu367Val
ENST00000367698.3:c.1099C>G	ENSP00000356671.3:p.Leu367Val
ENST00000617423.4:c.560-2113C>G	ENSP00000478688.1:n.560-2113C>G
NM_000488.3:c.1099C>G , LRG_577t1:c.1099C>G	NP_000479.1:p.Leu367Val
XM_005245198.2:c.955C>G	XP_005245255.1:p.Leu319Val
NM_001365052.1:c.955C>G	NP_001351981.1:p.Leu319Val
NM_000488.4:c.1099C>G MANE Select	NP_000479.1:p.Leu367Val
NM_001365052.2:c.955C>G	NP_001351981.1:p.Leu319Val
NM_001386302.1:c.1222C>G	NP_001373231.1:p.Leu408Val
NM_001386303.1:c.1180C>G	NP_001373232.1:p.Leu394Val
NM_001386304.1:c.1078C>G	NP_001373233.1:p.Leu360Val
NM_001386305.1:c.1042C>G	NP_001373234.1:p.Leu348Val
NM_001386306.1:c.883C>G	NP_001373235.1:p.Leu295Val