Canonical Allele Identifier: CA343773879
Gene: SERPINC1 HGNC NCBI

Linked Data

gnomAD v4: 1-173909694-T-G
MyVariant Identifiers: chr1:g.173878832T>G (hg19) chr1:g.173909694T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909694T>G , CM000663.2:g.173909694T>G GRCh38
NC_000001.10:g.173878832T>G , CM000663.1:g.173878832T>G GRCh37
NC_000001.9:g.172145455T>G NCBI36
NG_012462.1:g.12685A>C , LRG_577:g.12685A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1011A>C MANE Select ENSP00000356671.3:p.Gln337His
ENST00000367698.3:c.1011A>C ENSP00000356671.3:p.Gln337His
ENST00000617423.4:c.559+2170A>C ENSP00000478688.1:n.559+2170A>C
NM_000488.3:c.1011A>C , LRG_577t1:c.1011A>C NP_000479.1:p.Gln337His
XM_005245198.2:c.867A>C XP_005245255.1:p.Gln289His
NM_001365052.1:c.867A>C NP_001351981.1:p.Gln289His
NM_000488.4:c.1011A>C MANE Select NP_000479.1:p.Gln337His
NM_001365052.2:c.867A>C NP_001351981.1:p.Gln289His
NM_001386302.1:c.1134A>C NP_001373231.1:p.Gln378His
NM_001386303.1:c.1092A>C NP_001373232.1:p.Gln364His
NM_001386304.1:c.990A>C NP_001373233.1:p.Gln330His
NM_001386305.1:c.954A>C NP_001373234.1:p.Gln318His
NM_001386306.1:c.795A>C NP_001373235.1:p.Gln265His
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