Canonical Allele Identifier: CA74820233

Gene: ITIH1

Linked Data

• dbSNP Id: rs566482463
• gnomAD v3: 3-52783601-T-A
• gnomAD v4: 3-52783601-T-A
• MyVariant Identifiers: chr3:g.52817617T>A (hg19) ; chr3:g.52783601T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52783601T>A , CM000665.2:g.52783601T>A	GRCh38
NC_000003.11:g.52817617T>A , CM000665.1:g.52817617T>A	GRCh37
NC_000003.10:g.52792657T>A	NCBI36
NG_016005.1:g.11010T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000273283.7:c.1225+262T>A MANE Select	ENSP00000273283.2:n.1225+262T>A
ENST00000273283.6:c.1225+262T>A	ENSP00000273283.2:n.1225+262T>A
ENST00000537050.5:c.361+262T>A	ENSP00000443847.1:n.361+262T>A
ENST00000628722.2:n.1080+262T>A
NM_001166434.2:c.799+262T>A	NP_001159906.1:n.799+262T>A
NM_001166435.2:c.361+262T>A	NP_001159907.1:n.361+262T>A
NM_001166436.2:c.361+262T>A	NP_001159908.1:n.361+262T>A
NM_002215.3:c.1225+262T>A	NP_002206.2:n.1225+262T>A
NM_002215.4:c.1225+262T>A MANE Select	NP_002206.2:n.1225+262T>A
NM_001166434.3:c.799+262T>A	NP_001159906.1:n.799+262T>A