Canonical Allele Identifier: CA421942783

Gene: SERPINC1

Linked Data

• gnomAD v4: 1-173909892-G-A
• MyVariant Identifiers: chr1:g.173879030G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909892G>A , CM000663.2:g.173909892G>A	GRCh38
NC_000001.10:g.173879030G>A , CM000663.1:g.173879030G>A	GRCh37
NC_000001.9:g.172145653G>A	NCBI36
NG_012462.1:g.12487C>T , LRG_577:g.12487C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.813C>T MANE Select	ENSP00000356671.3:p.Phe271=
ENST00000367698.3:c.813C>T	ENSP00000356671.3:p.Phe271=
ENST00000487183.1:n.464C>T
ENST00000617423.4:c.559+1972C>T	ENSP00000478688.1:n.559+1972C>T
NM_000488.3:c.813C>T , LRG_577t1:c.813C>T	NP_000479.1:p.Phe271=
XM_005245198.2:c.669C>T	XP_005245255.1:p.Phe223=
NM_001365052.1:c.669C>T	NP_001351981.1:p.Phe223=
NM_000488.4:c.813C>T MANE Select	NP_000479.1:p.Phe271=
NM_001365052.2:c.669C>T	NP_001351981.1:p.Phe223=
NM_001386302.1:c.936C>T	NP_001373231.1:p.Phe312=
NM_001386303.1:c.894C>T	NP_001373232.1:p.Phe298=
NM_001386304.1:c.792C>T	NP_001373233.1:p.Phe264=
NM_001386305.1:c.763-7C>T	NP_001373234.1:n.763-7C>T
NM_001386306.1:c.597C>T	NP_001373235.1:p.Phe199=