Canonical Allele Identifier: CA74820244

Gene: ITIH1

Linked Data

• dbSNP Id: rs528847112
• gnomAD v3: 3-52783613-G-A
• gnomAD v4: 3-52783613-G-A
• MyVariant Identifiers: chr3:g.52817629G>A (hg19) ; chr3:g.52783613G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52783613G>A , CM000665.2:g.52783613G>A	GRCh38
NC_000003.11:g.52817629G>A , CM000665.1:g.52817629G>A	GRCh37
NC_000003.10:g.52792669G>A	NCBI36
NG_016005.1:g.11022G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000273283.7:c.1225+274G>A MANE Select	ENSP00000273283.2:n.1225+274G>A
ENST00000273283.6:c.1225+274G>A	ENSP00000273283.2:n.1225+274G>A
ENST00000537050.5:c.361+274G>A	ENSP00000443847.1:n.361+274G>A
ENST00000628722.2:n.1080+274G>A
NM_001166434.2:c.799+274G>A	NP_001159906.1:n.799+274G>A
NM_001166435.2:c.361+274G>A	NP_001159907.1:n.361+274G>A
NM_001166436.2:c.361+274G>A	NP_001159908.1:n.361+274G>A
NM_002215.3:c.1225+274G>A	NP_002206.2:n.1225+274G>A
NM_002215.4:c.1225+274G>A MANE Select	NP_002206.2:n.1225+274G>A
NM_001166434.3:c.799+274G>A	NP_001159906.1:n.799+274G>A