Canonical Allele Identifier: CA353177044

Gene: ITIH3

Linked Data

• MyVariant Identifiers: chr3:g.52833469A>G (hg19) ; chr3:g.52799453A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52799453A>G , CM000665.2:g.52799453A>G	GRCh38
NC_000003.11:g.52833469A>G , CM000665.1:g.52833469A>G	GRCh37
NC_000003.10:g.52808509A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703834.1:c.871A>G	ENSP00000515492.1:p.Ile291Val
ENST00000449956.3:c.871A>G MANE Select	ENSP00000415769.2:p.Ile291Val
ENST00000416872.6:c.871A>G	ENSP00000413922.2:p.Ile291Val
ENST00000449956.2:c.871A>G	ENSP00000415769.2:p.Ile291Val
ENST00000463893.1:n.370A>G
ENST00000465243.6:n.395A>G
ENST00000621946.4:c.871A>G	ENSP00000479928.1:p.Ile291Val
NM_002217.3:c.871A>G	NP_002208.3:p.Ile291Val
XM_005265105.3:c.871A>G	XP_005265162.1:p.Ile291Val
XM_006713129.2:c.871A>G	XP_006713192.1:p.Ile291Val
XM_006713130.2:c.871A>G	XP_006713193.1:p.Ile291Val
XM_005265105.5:c.871A>G	XP_005265162.1:p.Ile291Val
XM_024453512.1:c.-12A>G	XP_024309280.1:n.-12A>G
NM_001392019.1:c.871A>G	NP_001378948.1:p.Ile291Val
NM_001392020.1:c.871A>G	NP_001378949.1:p.Ile291Val
NM_001392021.1:c.871A>G	NP_001378950.1:p.Ile291Val
NM_001392022.1:c.871A>G	NP_001378951.1:p.Ile291Val
NM_001392023.1:c.850A>G	NP_001378952.1:p.Ile284Val
NM_001392024.1:c.871A>G	NP_001378953.1:p.Ile291Val
NM_001392025.1:c.871A>G	NP_001378954.1:p.Ile291Val
NM_001392026.1:c.871A>G	NP_001378955.1:p.Ile291Val
NM_001392027.1:c.871A>G	NP_001378956.1:p.Ile291Val
NM_002217.4:c.871A>G MANE Select	NP_002208.3:p.Ile291Val