Canonical Allele Identifier: CA421942890

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1204203278
• gnomAD v2: 1-173878799-C-G
• gnomAD v3: 1-173909661-C-G
• gnomAD v4: 1-173909661-C-G
• MyVariant Identifiers: chr1:g.173878799C>G (hg19) ; chr1:g.173909661C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909661C>G , CM000663.2:g.173909661C>G	GRCh38
NC_000001.10:g.173878799C>G , CM000663.1:g.173878799C>G	GRCh37
NC_000001.9:g.172145422C>G	NCBI36
NG_012462.1:g.12718G>C , LRG_577:g.12718G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1044G>C MANE Select	ENSP00000356671.3:p.Leu348=
ENST00000367698.3:c.1044G>C	ENSP00000356671.3:p.Leu348=
ENST00000617423.4:c.560-2168G>C	ENSP00000478688.1:n.560-2168G>C
NM_000488.3:c.1044G>C , LRG_577t1:c.1044G>C	NP_000479.1:p.Leu348=
XM_005245198.2:c.900G>C	XP_005245255.1:p.Leu300=
NM_001365052.1:c.900G>C	NP_001351981.1:p.Leu300=
NM_000488.4:c.1044G>C MANE Select	NP_000479.1:p.Leu348=
NM_001365052.2:c.900G>C	NP_001351981.1:p.Leu300=
NM_001386302.1:c.1167G>C	NP_001373231.1:p.Leu389=
NM_001386303.1:c.1125G>C	NP_001373232.1:p.Leu375=
NM_001386304.1:c.1023G>C	NP_001373233.1:p.Leu341=
NM_001386305.1:c.987G>C	NP_001373234.1:p.Leu329=
NM_001386306.1:c.828G>C	NP_001373235.1:p.Leu276=