Canonical Allele Identifier: CA421942775

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1343633518
• gnomAD v2: 1-173878694-G-A
• gnomAD v4: 1-173909556-G-A
• COSMIC: COSM6358977
• MyVariant Identifiers: chr1:g.173878694G>A (hg19) ; chr1:g.173909556G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909556G>A , CM000663.2:g.173909556G>A	GRCh38
NC_000001.10:g.173878694G>A , CM000663.1:g.173878694G>A	GRCh37
NC_000001.9:g.172145317G>A	NCBI36
NG_012462.1:g.12823C>T , LRG_577:g.12823C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1149C>T MANE Select	ENSP00000356671.3:p.Leu383=
ENST00000367698.3:c.1149C>T	ENSP00000356671.3:p.Leu383=
ENST00000617423.4:c.560-2063C>T	ENSP00000478688.1:n.560-2063C>T
NM_000488.3:c.1149C>T , LRG_577t1:c.1149C>T	NP_000479.1:p.Leu383=
XM_005245198.2:c.1005C>T	XP_005245255.1:p.Leu335=
NM_001365052.1:c.1005C>T	NP_001351981.1:p.Leu335=
NM_000488.4:c.1149C>T MANE Select	NP_000479.1:p.Leu383=
NM_001365052.2:c.1005C>T	NP_001351981.1:p.Leu335=
NM_001386302.1:c.1272C>T	NP_001373231.1:p.Leu424=
NM_001386303.1:c.1230C>T	NP_001373232.1:p.Leu410=
NM_001386304.1:c.1128C>T	NP_001373233.1:p.Leu376=
NM_001386305.1:c.1092C>T	NP_001373234.1:p.Leu364=
NM_001386306.1:c.933C>T	NP_001373235.1:p.Leu311=