Canonical Allele Identifier: CA421821549

Gene: SERPINC1

Linked Data

• dbSNP Id: rs773792958
• gnomAD v2: 1-173873144-C-G
• gnomAD v4: 1-173904006-C-G
• MyVariant Identifiers: chr1:g.173873144C>G (hg19) ; chr1:g.173904006C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173904006C>G , CM000663.2:g.173904006C>G	GRCh38
NC_000001.10:g.173873144C>G , CM000663.1:g.173873144C>G	GRCh37
NC_000001.9:g.172139767C>G	NCBI36
NG_012462.1:g.18373G>C , LRG_577:g.18373G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1278G>C MANE Select	ENSP00000356671.3:p.Ser426=
ENST00000367698.3:c.1278G>C	ENSP00000356671.3:p.Ser426=
ENST00000617423.4:c.663G>C	ENSP00000478688.1:p.Ser221=
NM_000488.3:c.1278G>C , LRG_577t1:c.1278G>C	NP_000479.1:p.Ser426=
XM_005245198.2:c.1134G>C	XP_005245255.1:p.Ser378=
NM_001365052.1:c.1134G>C	NP_001351981.1:p.Ser378=
NM_000488.4:c.1278G>C MANE Select	NP_000479.1:p.Ser426=
NM_001365052.2:c.1134G>C	NP_001351981.1:p.Ser378=
NM_001386302.1:c.1401G>C	NP_001373231.1:p.Ser467=
NM_001386303.1:c.1359G>C	NP_001373232.1:p.Ser453=
NM_001386304.1:c.1257G>C	NP_001373233.1:p.Ser419=
NM_001386305.1:c.1221G>C	NP_001373234.1:p.Ser407=
NM_001386306.1:c.1062G>C	NP_001373235.1:p.Ser354=