Canonical Allele Identifier: CA343773621

Gene: SERPINC1

Linked Data

• gnomAD v4: 1-173909624-A-G
• MyVariant Identifiers: chr1:g.173878762A>G (hg19) ; chr1:g.173909624A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909624A>G , CM000663.2:g.173909624A>G	GRCh38
NC_000001.10:g.173878762A>G , CM000663.1:g.173878762A>G	GRCh37
NC_000001.9:g.172145385A>G	NCBI36
NG_012462.1:g.12755T>C , LRG_577:g.12755T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1081T>C MANE Select	ENSP00000356671.3:p.Phe361Leu
ENST00000367698.3:c.1081T>C	ENSP00000356671.3:p.Phe361Leu
ENST00000617423.4:c.560-2131T>C	ENSP00000478688.1:n.560-2131T>C
NM_000488.3:c.1081T>C , LRG_577t1:c.1081T>C	NP_000479.1:p.Phe361Leu
XM_005245198.2:c.937T>C	XP_005245255.1:p.Phe313Leu
NM_001365052.1:c.937T>C	NP_001351981.1:p.Phe313Leu
NM_000488.4:c.1081T>C MANE Select	NP_000479.1:p.Phe361Leu
NM_001365052.2:c.937T>C	NP_001351981.1:p.Phe313Leu
NM_001386302.1:c.1204T>C	NP_001373231.1:p.Phe402Leu
NM_001386303.1:c.1162T>C	NP_001373232.1:p.Phe388Leu
NM_001386304.1:c.1060T>C	NP_001373233.1:p.Phe354Leu
NM_001386305.1:c.1024T>C	NP_001373234.1:p.Phe342Leu
NM_001386306.1:c.865T>C	NP_001373235.1:p.Phe289Leu