Canonical Allele Identifier: CA908127869

Gene: ITIH1

Linked Data

• dbSNP Id: rs1341229028
• gnomAD v3: 3-52783631-T-C
• gnomAD v4: 3-52783631-T-C
• MyVariant Identifiers: chr3:g.52817647T>C (hg19) ; chr3:g.52783631T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52783631T>C , CM000665.2:g.52783631T>C	GRCh38
NC_000003.11:g.52817647T>C , CM000665.1:g.52817647T>C	GRCh37
NC_000003.10:g.52792687T>C	NCBI36
NG_016005.1:g.11040T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000273283.7:c.1225+292T>C MANE Select	ENSP00000273283.2:n.1225+292T>C
ENST00000273283.6:c.1225+292T>C	ENSP00000273283.2:n.1225+292T>C
ENST00000537050.5:c.361+292T>C	ENSP00000443847.1:n.361+292T>C
ENST00000628722.2:n.1080+292T>C
NM_001166434.2:c.799+292T>C	NP_001159906.1:n.799+292T>C
NM_001166435.2:c.361+292T>C	NP_001159907.1:n.361+292T>C
NM_001166436.2:c.361+292T>C	NP_001159908.1:n.361+292T>C
NM_002215.3:c.1225+292T>C	NP_002206.2:n.1225+292T>C
NM_002215.4:c.1225+292T>C MANE Select	NP_002206.2:n.1225+292T>C
NM_001166434.3:c.799+292T>C	NP_001159906.1:n.799+292T>C