Canonical Allele Identifier: CA2666069382

Gene: ITIH1

Linked Data

• gnomAD v4: 3-52786924-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52786924C>T , CM000665.2:g.52786924C>T	GRCh38
NC_000003.11:g.52820940C>T , CM000665.1:g.52820940C>T	GRCh37
NC_000003.10:g.52795980C>T	NCBI36
NG_016005.1:g.14333C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000273283.7:c.1734-21C>T MANE Select	ENSP00000273283.2:n.1734-21C>T
ENST00000273283.6:c.1734-21C>T	ENSP00000273283.2:n.1734-21C>T
ENST00000428133.5:c.393-21C>T	ENSP00000395836.1:n.393-21C>T
ENST00000537050.5:c.870-21C>T	ENSP00000443847.1:n.870-21C>T
ENST00000628722.2:n.1589-21C>T
NM_001166434.2:c.1308-21C>T	NP_001159906.1:n.1308-21C>T
NM_001166435.2:c.870-21C>T	NP_001159907.1:n.870-21C>T
NM_001166436.2:c.870-21C>T	NP_001159908.1:n.870-21C>T
NM_002215.3:c.1734-21C>T	NP_002206.2:n.1734-21C>T
NM_002215.4:c.1734-21C>T MANE Select	NP_002206.2:n.1734-21C>T
NM_001166434.3:c.1308-21C>T	NP_001159906.1:n.1308-21C>T