Canonical Allele Identifier: CA2448132

Gene: ITIH3

Linked Data

• ClinVar Variation Id: 2467324
• ClinVar RCV Id: RCV004256568
• dbSNP Id: rs546752822
• ExAC: 3:52833490 C / T
• gnomAD v2: 3-52833490-C-T
• gnomAD v3: 3-52799474-C-T
• gnomAD v4: 3-52799474-C-T
• MyVariant Identifiers: chr3:g.52833490C>T (hg19) ; chr3:g.52799474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52799474C>T , CM000665.2:g.52799474C>T	GRCh38
NC_000003.11:g.52833490C>T , CM000665.1:g.52833490C>T	GRCh37
NC_000003.10:g.52808530C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703834.1:c.892C>T	ENSP00000515492.1:p.Arg298Trp
ENST00000449956.3:c.892C>T MANE Select	ENSP00000415769.2:p.Arg298Trp
ENST00000416872.6:c.892C>T	ENSP00000413922.2:p.Arg298Trp
ENST00000449956.2:c.892C>T	ENSP00000415769.2:p.Arg298Trp
ENST00000463893.1:n.391C>T
ENST00000465243.6:n.416C>T
ENST00000621946.4:c.892C>T	ENSP00000479928.1:p.Arg298Trp
NM_002217.3:c.892C>T	NP_002208.3:p.Arg298Trp
XM_005265105.3:c.892C>T	XP_005265162.1:p.Arg298Trp
XM_006713129.2:c.892C>T	XP_006713192.1:p.Arg298Trp
XM_006713130.2:c.892C>T	XP_006713193.1:p.Arg298Trp
XM_005265105.5:c.892C>T	XP_005265162.1:p.Arg298Trp
XM_024453512.1:c.10C>T	XP_024309280.1:p.Arg4Trp
NM_001392019.1:c.892C>T	NP_001378948.1:p.Arg298Trp
NM_001392020.1:c.892C>T	NP_001378949.1:p.Arg298Trp
NM_001392021.1:c.892C>T	NP_001378950.1:p.Arg298Trp
NM_001392022.1:c.892C>T	NP_001378951.1:p.Arg298Trp
NM_001392023.1:c.871C>T	NP_001378952.1:p.Arg291Trp
NM_001392024.1:c.892C>T	NP_001378953.1:p.Arg298Trp
NM_001392025.1:c.892C>T	NP_001378954.1:p.Arg298Trp
NM_001392026.1:c.892C>T	NP_001378955.1:p.Arg298Trp
NM_001392027.1:c.892C>T	NP_001378956.1:p.Arg298Trp
NM_002217.4:c.892C>T MANE Select	NP_002208.3:p.Arg298Trp