Canonical Allele Identifier: CA343773723
Gene: SERPINC1 HGNC NCBI

Linked Data

gnomAD v4: 1-173909660-C-T
MyVariant Identifiers: chr1:g.173878798C>T (hg19) chr1:g.173909660C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909660C>T , CM000663.2:g.173909660C>T GRCh38
NC_000001.10:g.173878798C>T , CM000663.1:g.173878798C>T GRCh37
NC_000001.9:g.172145421C>T NCBI36
NG_012462.1:g.12719G>A , LRG_577:g.12719G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1045G>A MANE Select ENSP00000356671.3:p.Val349Met
ENST00000367698.3:c.1045G>A ENSP00000356671.3:p.Val349Met
ENST00000617423.4:c.560-2167G>A ENSP00000478688.1:n.560-2167G>A
NM_000488.3:c.1045G>A , LRG_577t1:c.1045G>A NP_000479.1:p.Val349Met
XM_005245198.2:c.901G>A XP_005245255.1:p.Val301Met
NM_001365052.1:c.901G>A NP_001351981.1:p.Val301Met
NM_000488.4:c.1045G>A MANE Select NP_000479.1:p.Val349Met
NM_001365052.2:c.901G>A NP_001351981.1:p.Val301Met
NM_001386302.1:c.1168G>A NP_001373231.1:p.Val390Met
NM_001386303.1:c.1126G>A NP_001373232.1:p.Val376Met
NM_001386304.1:c.1024G>A NP_001373233.1:p.Val342Met
NM_001386305.1:c.988G>A NP_001373234.1:p.Val330Met
NM_001386306.1:c.829G>A NP_001373235.1:p.Val277Met
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