Canonical Allele Identifier: CA343774514

Gene: SERPINC1

Linked Data

• gnomAD v4: 1-173909849-G-C
• MyVariant Identifiers: chr1:g.173878987G>C (hg19) ; chr1:g.173909849G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909849G>C , CM000663.2:g.173909849G>C	GRCh38
NC_000001.10:g.173878987G>C , CM000663.1:g.173878987G>C	GRCh37
NC_000001.9:g.172145610G>C	NCBI36
NG_012462.1:g.12530C>G , LRG_577:g.12530C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.856C>G MANE Select	ENSP00000356671.3:p.Gln286Glu
ENST00000367698.3:c.856C>G	ENSP00000356671.3:p.Gln286Glu
ENST00000487183.1:n.507C>G
ENST00000617423.4:c.559+2015C>G	ENSP00000478688.1:n.559+2015C>G
NM_000488.3:c.856C>G , LRG_577t1:c.856C>G	NP_000479.1:p.Gln286Glu
XM_005245198.2:c.712C>G	XP_005245255.1:p.Gln238Glu
NM_001365052.1:c.712C>G	NP_001351981.1:p.Gln238Glu
NM_000488.4:c.856C>G MANE Select	NP_000479.1:p.Gln286Glu
NM_001365052.2:c.712C>G	NP_001351981.1:p.Gln238Glu
NM_001386302.1:c.979C>G	NP_001373231.1:p.Gln327Glu
NM_001386303.1:c.937C>G	NP_001373232.1:p.Gln313Glu
NM_001386304.1:c.835C>G	NP_001373233.1:p.Gln279Glu
NM_001386305.1:c.799C>G	NP_001373234.1:p.Gln267Glu
NM_001386306.1:c.640C>G	NP_001373235.1:p.Gln214Glu