Canonical Allele Identifier: CA2666069348

Gene: ITIH1

Linked Data

• gnomAD v4: 3-52786900-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52786900G>A , CM000665.2:g.52786900G>A	GRCh38
NC_000003.11:g.52820916G>A , CM000665.1:g.52820916G>A	GRCh37
NC_000003.10:g.52795956G>A	NCBI36
NG_016005.1:g.14309G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000273283.7:c.1734-45G>A MANE Select	ENSP00000273283.2:n.1734-45G>A
ENST00000273283.6:c.1734-45G>A	ENSP00000273283.2:n.1734-45G>A
ENST00000428133.5:c.393-45G>A	ENSP00000395836.1:n.393-45G>A
ENST00000537050.5:c.870-45G>A	ENSP00000443847.1:n.870-45G>A
ENST00000628722.2:n.1589-45G>A
NM_001166434.2:c.1308-45G>A	NP_001159906.1:n.1308-45G>A
NM_001166435.2:c.870-45G>A	NP_001159907.1:n.870-45G>A
NM_001166436.2:c.870-45G>A	NP_001159908.1:n.870-45G>A
NM_002215.3:c.1734-45G>A	NP_002206.2:n.1734-45G>A
NM_002215.4:c.1734-45G>A MANE Select	NP_002206.2:n.1734-45G>A
NM_001166434.3:c.1308-45G>A	NP_001159906.1:n.1308-45G>A