Canonical Allele Identifier: CA1251408

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 1554499
• ClinVar RCV Id: RCV002190198
• dbSNP Id: rs759369437
• ExAC: 1:173881093 G / A
• gnomAD v2: 1-173881093-G-A
• gnomAD v3: 1-173911955-G-A
• gnomAD v4: 1-173911955-G-A
• MyVariant Identifiers: chr1:g.173881093G>A (hg19) ; chr1:g.173911955G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173911955G>A , CM000663.2:g.173911955G>A	GRCh38
NC_000001.10:g.173881093G>A , CM000663.1:g.173881093G>A	GRCh37
NC_000001.9:g.172147716G>A	NCBI36
NG_012462.1:g.10424C>T , LRG_577:g.10424C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.468C>T MANE Select	ENSP00000356671.3:p.Ala156=
ENST00000367698.3:c.468C>T	ENSP00000356671.3:p.Ala156=
ENST00000487183.1:n.173C>T
ENST00000617423.4:c.468C>T	ENSP00000478688.1:p.Ala156=
NM_000488.3:c.468C>T , LRG_577t1:c.468C>T	NP_000479.1:p.Ala156=
XM_005245198.2:c.324C>T	XP_005245255.1:p.Ala108=
NM_001365052.1:c.324C>T	NP_001351981.1:p.Ala108=
NM_000488.4:c.468C>T MANE Select	NP_000479.1:p.Ala156=
NM_001365052.2:c.324C>T	NP_001351981.1:p.Ala108=
NM_001386302.1:c.468C>T	NP_001373231.1:p.Ala156=
NM_001386303.1:c.549C>T	NP_001373232.1:p.Ala183=
NM_001386304.1:c.468C>T	NP_001373233.1:p.Ala156=
NM_001386305.1:c.468C>T	NP_001373234.1:p.Ala156=
NM_001386306.1:c.409-1064C>T	NP_001373235.1:n.409-1064C>T