Canonical Allele Identifier: CA343778515

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1211286118
• gnomAD v2: 1-173884028-A-G
• gnomAD v4: 1-173914890-A-G
• MyVariant Identifiers: chr1:g.173884028A>G (hg19) ; chr1:g.173914890A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173914890A>G , CM000663.2:g.173914890A>G	GRCh38
NC_000001.10:g.173884028A>G , CM000663.1:g.173884028A>G	GRCh37
NC_000001.9:g.172150651A>G	NCBI36
NG_012462.1:g.7489T>C , LRG_577:g.7489T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.71T>C MANE Select	ENSP00000356671.3:p.Ile24Thr
ENST00000367698.3:c.71T>C	ENSP00000356671.3:p.Ile24Thr
ENST00000494024.1:n.297T>C
ENST00000617423.4:c.71T>C	ENSP00000478688.1:p.Ile24Thr
NM_000488.3:c.71T>C , LRG_577t1:c.71T>C	NP_000479.1:p.Ile24Thr
XM_005245198.2:c.-74T>C	XP_005245255.1:n.-74T>C
NM_001365052.1:c.-74T>C	NP_001351981.1:n.-74T>C
NM_000488.4:c.71T>C MANE Select	NP_000479.1:p.Ile24Thr
NM_001365052.2:c.-74T>C	NP_001351981.1:n.-74T>C
NM_001386302.1:c.71T>C	NP_001373231.1:p.Ile24Thr
NM_001386303.1:c.152T>C	NP_001373232.1:p.Ile51Thr
NM_001386304.1:c.71T>C	NP_001373233.1:p.Ile24Thr
NM_001386305.1:c.71T>C	NP_001373234.1:p.Ile24Thr
NM_001386306.1:c.71T>C	NP_001373235.1:p.Ile24Thr