Canonical Allele Identifier: CA421821592

Gene: SERPINC1

Linked Data

• dbSNP Id: rs559277597
• gnomAD v2: 1-173873168-G-T
• gnomAD v4: 1-173904030-G-T
• MyVariant Identifiers: chr1:g.173873168G>T (hg19) ; chr1:g.173904030G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173904030G>T , CM000663.2:g.173904030G>T	GRCh38
NC_000001.10:g.173873168G>T , CM000663.1:g.173873168G>T	GRCh37
NC_000001.9:g.172139791G>T	NCBI36
NG_012462.1:g.18349C>A , LRG_577:g.18349C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1254C>A MANE Select	ENSP00000356671.3:p.Thr418=
ENST00000367698.3:c.1254C>A	ENSP00000356671.3:p.Thr418=
ENST00000617423.4:c.639C>A	ENSP00000478688.1:p.Thr213=
NM_000488.3:c.1254C>A , LRG_577t1:c.1254C>A	NP_000479.1:p.Thr418=
XM_005245198.2:c.1110C>A	XP_005245255.1:p.Thr370=
NM_001365052.1:c.1110C>A	NP_001351981.1:p.Thr370=
NM_000488.4:c.1254C>A MANE Select	NP_000479.1:p.Thr418=
NM_001365052.2:c.1110C>A	NP_001351981.1:p.Thr370=
NM_001386302.1:c.1377C>A	NP_001373231.1:p.Thr459=
NM_001386303.1:c.1335C>A	NP_001373232.1:p.Thr445=
NM_001386304.1:c.1233C>A	NP_001373233.1:p.Thr411=
NM_001386305.1:c.1197C>A	NP_001373234.1:p.Thr399=
NM_001386306.1:c.1038C>A	NP_001373235.1:p.Thr346=