Canonical Allele Identifier: CA353192187

Gene: ITIH1

Linked Data

• MyVariant Identifiers: chr3:g.52821037A>C (hg19) ; chr3:g.52787021A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52787021A>C , CM000665.2:g.52787021A>C	GRCh38
NC_000003.11:g.52821037A>C , CM000665.1:g.52821037A>C	GRCh37
NC_000003.10:g.52796077A>C	NCBI36
NG_016005.1:g.14430A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273283.7:c.1810A>C MANE Select	ENSP00000273283.2:p.Thr604Pro
ENST00000273283.6:c.1810A>C	ENSP00000273283.2:p.Thr604Pro
ENST00000428133.5:c.469A>C	ENSP00000395836.1:p.Thr157Pro
ENST00000484844.2:c.77A>C
ENST00000537050.5:c.946A>C	ENSP00000443847.1:p.Thr316Pro
ENST00000628722.2:n.1665A>C
NM_001166434.2:c.1384A>C	NP_001159906.1:p.Thr462Pro
NM_001166435.2:c.946A>C	NP_001159907.1:p.Thr316Pro
NM_001166436.2:c.946A>C	NP_001159908.1:p.Thr316Pro
NM_002215.3:c.1810A>C	NP_002206.2:p.Thr604Pro
NM_002215.4:c.1810A>C MANE Select	NP_002206.2:p.Thr604Pro
NM_001166434.3:c.1384A>C	NP_001159906.1:p.Thr462Pro