Canonical Allele Identifier: CA2447396

Gene: ITIH1

Linked Data

• dbSNP Id: rs771420538
• ExAC: 3:52820918 C / T
• gnomAD v2: 3-52820918-C-T
• gnomAD v3: 3-52786902-C-T
• gnomAD v4: 3-52786902-C-T
• MyVariant Identifiers: chr3:g.52820918C>T (hg19) ; chr3:g.52786902C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52786902C>T , CM000665.2:g.52786902C>T	GRCh38
NC_000003.11:g.52820918C>T , CM000665.1:g.52820918C>T	GRCh37
NC_000003.10:g.52795958C>T	NCBI36
NG_016005.1:g.14311C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000273283.7:c.1734-43C>T MANE Select	ENSP00000273283.2:n.1734-43C>T
ENST00000273283.6:c.1734-43C>T	ENSP00000273283.2:n.1734-43C>T
ENST00000428133.5:c.393-43C>T	ENSP00000395836.1:n.393-43C>T
ENST00000537050.5:c.870-43C>T	ENSP00000443847.1:n.870-43C>T
ENST00000628722.2:n.1589-43C>T
NM_001166434.2:c.1308-43C>T	NP_001159906.1:n.1308-43C>T
NM_001166435.2:c.870-43C>T	NP_001159907.1:n.870-43C>T
NM_001166436.2:c.870-43C>T	NP_001159908.1:n.870-43C>T
NM_002215.3:c.1734-43C>T	NP_002206.2:n.1734-43C>T
NM_002215.4:c.1734-43C>T MANE Select	NP_002206.2:n.1734-43C>T
NM_001166434.3:c.1308-43C>T	NP_001159906.1:n.1308-43C>T