Canonical Allele Identifier: CA353176695

Gene: ITIH3

Linked Data

• gnomAD v4: 3-52799387-T-C
• MyVariant Identifiers: chr3:g.52833403T>C (hg19) ; chr3:g.52799387T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52799387T>C , CM000665.2:g.52799387T>C	GRCh38
NC_000003.11:g.52833403T>C , CM000665.1:g.52833403T>C	GRCh37
NC_000003.10:g.52808443T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703834.1:c.805T>C	ENSP00000515492.1:p.Phe269Leu
ENST00000449956.3:c.805T>C MANE Select	ENSP00000415769.2:p.Phe269Leu
ENST00000416872.6:c.805T>C	ENSP00000413922.2:p.Phe269Leu
ENST00000449956.2:c.805T>C	ENSP00000415769.2:p.Phe269Leu
ENST00000463893.1:n.304T>C
ENST00000465243.6:n.329T>C
ENST00000621946.4:c.805T>C	ENSP00000479928.1:p.Phe269Leu
NM_002217.3:c.805T>C	NP_002208.3:p.Phe269Leu
XM_005265105.3:c.805T>C	XP_005265162.1:p.Phe269Leu
XM_006713129.2:c.805T>C	XP_006713192.1:p.Phe269Leu
XM_006713130.2:c.805T>C	XP_006713193.1:p.Phe269Leu
XM_005265105.5:c.805T>C	XP_005265162.1:p.Phe269Leu
XM_024453512.1:c.-78T>C	XP_024309280.1:n.-78T>C
NM_001392019.1:c.805T>C	NP_001378948.1:p.Phe269Leu
NM_001392020.1:c.805T>C	NP_001378949.1:p.Phe269Leu
NM_001392021.1:c.805T>C	NP_001378950.1:p.Phe269Leu
NM_001392022.1:c.805T>C	NP_001378951.1:p.Phe269Leu
NM_001392023.1:c.784T>C	NP_001378952.1:p.Phe262Leu
NM_001392024.1:c.805T>C	NP_001378953.1:p.Phe269Leu
NM_001392025.1:c.805T>C	NP_001378954.1:p.Phe269Leu
NM_001392026.1:c.805T>C	NP_001378955.1:p.Phe269Leu
NM_001392027.1:c.805T>C	NP_001378956.1:p.Phe269Leu
NM_002217.4:c.805T>C MANE Select	NP_002208.3:p.Phe269Leu