Canonical Allele Identifier: CA343774825
Gene: SERPINC1 HGNC NCBI

Linked Data

gnomAD v4: 1-173909941-C-G
MyVariant Identifiers: chr1:g.173879079C>G (hg19) chr1:g.173909941C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909941C>G , CM000663.2:g.173909941C>G GRCh38
NC_000001.10:g.173879079C>G , CM000663.1:g.173879079C>G GRCh37
NC_000001.9:g.172145702C>G NCBI36
NG_012462.1:g.12438G>C , LRG_577:g.12438G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.764G>C MANE Select ENSP00000356671.3:p.Gly255Ala
ENST00000367698.3:c.764G>C ENSP00000356671.3:p.Gly255Ala
ENST00000487183.1:n.415G>C
ENST00000617423.4:c.559+1923G>C ENSP00000478688.1:n.559+1923G>C
NM_000488.3:c.764G>C , LRG_577t1:c.764G>C NP_000479.1:p.Gly255Ala
XM_005245198.2:c.620G>C XP_005245255.1:p.Gly207Ala
NM_001365052.1:c.620G>C NP_001351981.1:p.Gly207Ala
NM_000488.4:c.764G>C MANE Select NP_000479.1:p.Gly255Ala
NM_001365052.2:c.620G>C NP_001351981.1:p.Gly207Ala
NM_001386302.1:c.887G>C NP_001373231.1:p.Gly296Ala
NM_001386303.1:c.845G>C NP_001373232.1:p.Gly282Ala
NM_001386304.1:c.743G>C NP_001373233.1:p.Gly248Ala
NM_001386305.1:c.763-56G>C NP_001373234.1:n.763-56G>C
NM_001386306.1:c.548G>C NP_001373235.1:p.Gly183Ala
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