Canonical Allele Identifier: CA343774254

Gene: SERPINC1

Linked Data

• gnomAD v4: 1-173909785-T-C
• MyVariant Identifiers: chr1:g.173878923T>C (hg19) ; chr1:g.173909785T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909785T>C , CM000663.2:g.173909785T>C	GRCh38
NC_000001.10:g.173878923T>C , CM000663.1:g.173878923T>C	GRCh37
NC_000001.9:g.172145546T>C	NCBI36
NG_012462.1:g.12594A>G , LRG_577:g.12594A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.920A>G MANE Select	ENSP00000356671.3:p.Lys307Arg
ENST00000367698.3:c.920A>G	ENSP00000356671.3:p.Lys307Arg
ENST00000487183.1:n.571A>G
ENST00000617423.4:c.559+2079A>G	ENSP00000478688.1:n.559+2079A>G
NM_000488.3:c.920A>G , LRG_577t1:c.920A>G	NP_000479.1:p.Lys307Arg
XM_005245198.2:c.776A>G	XP_005245255.1:p.Lys259Arg
NM_001365052.1:c.776A>G	NP_001351981.1:p.Lys259Arg
NM_000488.4:c.920A>G MANE Select	NP_000479.1:p.Lys307Arg
NM_001365052.2:c.776A>G	NP_001351981.1:p.Lys259Arg
NM_001386302.1:c.1043A>G	NP_001373231.1:p.Lys348Arg
NM_001386303.1:c.1001A>G	NP_001373232.1:p.Lys334Arg
NM_001386304.1:c.899A>G	NP_001373233.1:p.Lys300Arg
NM_001386305.1:c.863A>G	NP_001373234.1:p.Lys288Arg
NM_001386306.1:c.704A>G	NP_001373235.1:p.Lys235Arg