Canonical Allele Identifier: CA343774309

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1657688142
• gnomAD v3: 1-173909798-C-A
• gnomAD v4: 1-173909798-C-A
• MyVariant Identifiers: chr1:g.173878936C>A (hg19) ; chr1:g.173909798C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909798C>A , CM000663.2:g.173909798C>A	GRCh38
NC_000001.10:g.173878936C>A , CM000663.1:g.173878936C>A	GRCh37
NC_000001.9:g.172145559C>A	NCBI36
NG_012462.1:g.12581G>T , LRG_577:g.12581G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.907G>T MANE Select	ENSP00000356671.3:p.Glu303Ter
ENST00000367698.3:c.907G>T	ENSP00000356671.3:p.Glu303Ter
ENST00000487183.1:n.558G>T
ENST00000617423.4:c.559+2066G>T	ENSP00000478688.1:n.559+2066G>T
NM_000488.3:c.907G>T , LRG_577t1:c.907G>T	NP_000479.1:p.Glu303Ter
XM_005245198.2:c.763G>T	XP_005245255.1:p.Glu255Ter
NM_001365052.1:c.763G>T	NP_001351981.1:p.Glu255Ter
NM_000488.4:c.907G>T MANE Select	NP_000479.1:p.Glu303Ter
NM_001365052.2:c.763G>T	NP_001351981.1:p.Glu255Ter
NM_001386302.1:c.1030G>T	NP_001373231.1:p.Glu344Ter
NM_001386303.1:c.988G>T	NP_001373232.1:p.Glu330Ter
NM_001386304.1:c.886G>T	NP_001373233.1:p.Glu296Ter
NM_001386305.1:c.850G>T	NP_001373234.1:p.Glu284Ter
NM_001386306.1:c.691G>T	NP_001373235.1:p.Glu231Ter