Canonical Allele Identifier: CA343774332

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1228716628
• gnomAD v3: 1-173909805-C-A
• gnomAD v4: 1-173909805-C-A
• MyVariant Identifiers: chr1:g.173878943C>A (hg19) ; chr1:g.173909805C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909805C>A , CM000663.2:g.173909805C>A	GRCh38
NC_000001.10:g.173878943C>A , CM000663.1:g.173878943C>A	GRCh37
NC_000001.9:g.172145566C>A	NCBI36
NG_012462.1:g.12574G>T , LRG_577:g.12574G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.900G>T MANE Select	ENSP00000356671.3:p.Gln300His
ENST00000367698.3:c.900G>T	ENSP00000356671.3:p.Gln300His
ENST00000487183.1:n.551G>T
ENST00000617423.4:c.559+2059G>T	ENSP00000478688.1:n.559+2059G>T
NM_000488.3:c.900G>T , LRG_577t1:c.900G>T	NP_000479.1:p.Gln300His
XM_005245198.2:c.756G>T	XP_005245255.1:p.Gln252His
NM_001365052.1:c.756G>T	NP_001351981.1:p.Gln252His
NM_000488.4:c.900G>T MANE Select	NP_000479.1:p.Gln300His
NM_001365052.2:c.756G>T	NP_001351981.1:p.Gln252His
NM_001386302.1:c.1023G>T	NP_001373231.1:p.Gln341His
NM_001386303.1:c.981G>T	NP_001373232.1:p.Gln327His
NM_001386304.1:c.879G>T	NP_001373233.1:p.Gln293His
NM_001386305.1:c.843G>T	NP_001373234.1:p.Gln281His
NM_001386306.1:c.684G>T	NP_001373235.1:p.Gln228His