Canonical Allele Identifier: CA343773716
Gene: SERPINC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.173878797A>G (hg19) chr1:g.173909659A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909659A>G , CM000663.2:g.173909659A>G GRCh38
NC_000001.10:g.173878797A>G , CM000663.1:g.173878797A>G GRCh37
NC_000001.9:g.172145420A>G NCBI36
NG_012462.1:g.12720T>C , LRG_577:g.12720T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1046T>C MANE Select ENSP00000356671.3:p.Val349Ala
ENST00000367698.3:c.1046T>C ENSP00000356671.3:p.Val349Ala
ENST00000617423.4:c.560-2166T>C ENSP00000478688.1:n.560-2166T>C
NM_000488.3:c.1046T>C , LRG_577t1:c.1046T>C NP_000479.1:p.Val349Ala
XM_005245198.2:c.902T>C XP_005245255.1:p.Val301Ala
NM_001365052.1:c.902T>C NP_001351981.1:p.Val301Ala
NM_000488.4:c.1046T>C MANE Select NP_000479.1:p.Val349Ala
NM_001365052.2:c.902T>C NP_001351981.1:p.Val301Ala
NM_001386302.1:c.1169T>C NP_001373231.1:p.Val390Ala
NM_001386303.1:c.1127T>C NP_001373232.1:p.Val376Ala
NM_001386304.1:c.1025T>C NP_001373233.1:p.Val342Ala
NM_001386305.1:c.989T>C NP_001373234.1:p.Val330Ala
NM_001386306.1:c.830T>C NP_001373235.1:p.Val277Ala
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