Canonical Allele Identifier: CA658657319
Gene: ITIH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52786995A= , CM000665.2:g.52786995A= GRCh38
NC_000003.11:g.52821011A= , CM000665.1:g.52821011A= GRCh37
NC_000003.10:g.52796051A= NCBI36
NG_016005.1:g.14404A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000273283.7:c.1784A= MANE Select ENSP00000273283.2:p.Gln595=
ENST00000273283.6:c.1784A= ENSP00000273283.2:p.Gln595=
ENST00000428133.5:c.443A= ENSP00000395836.1:p.Gln148=
ENST00000484844.2:c.51A=
ENST00000537050.5:c.920A= ENSP00000443847.1:p.Gln307=
ENST00000628722.2:n.1639A=
NM_001166434.2:c.1358A= NP_001159906.1:p.Gln453=
NM_001166435.2:c.920A= NP_001159907.1:p.Gln307=
NM_001166436.2:c.920A= NP_001159908.1:p.Gln307=
NM_002215.3:c.1784A= NP_002206.2:p.Gln595=
NM_002215.4:c.1784A= MANE Select NP_002206.2:p.Gln595=
NM_001166434.3:c.1358A= NP_001159906.1:p.Gln453=