Canonical Allele Identifier: CA2447398

Gene: ITIH1

Linked Data

• dbSNP Id: rs759870645
• ExAC: 3:52820923 A / G
• gnomAD v2: 3-52820923-A-G
• gnomAD v4: 3-52786907-A-G
• MyVariant Identifiers: chr3:g.52820923A>G (hg19) ; chr3:g.52786907A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52786907A>G , CM000665.2:g.52786907A>G	GRCh38
NC_000003.11:g.52820923A>G , CM000665.1:g.52820923A>G	GRCh37
NC_000003.10:g.52795963A>G	NCBI36
NG_016005.1:g.14316A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000273283.7:c.1734-38A>G MANE Select	ENSP00000273283.2:n.1734-38A>G
ENST00000273283.6:c.1734-38A>G	ENSP00000273283.2:n.1734-38A>G
ENST00000428133.5:c.393-38A>G	ENSP00000395836.1:n.393-38A>G
ENST00000537050.5:c.870-38A>G	ENSP00000443847.1:n.870-38A>G
ENST00000628722.2:n.1589-38A>G
NM_001166434.2:c.1308-38A>G	NP_001159906.1:n.1308-38A>G
NM_001166435.2:c.870-38A>G	NP_001159907.1:n.870-38A>G
NM_001166436.2:c.870-38A>G	NP_001159908.1:n.870-38A>G
NM_002215.3:c.1734-38A>G	NP_002206.2:n.1734-38A>G
NM_002215.4:c.1734-38A>G MANE Select	NP_002206.2:n.1734-38A>G
NM_001166434.3:c.1308-38A>G	NP_001159906.1:n.1308-38A>G