Canonical Allele Identifier: CA353192087

Gene: ITIH1

Linked Data

• MyVariant Identifiers: chr3:g.52821016T>C (hg19) ; chr3:g.52787000T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52787000T>C , CM000665.2:g.52787000T>C	GRCh38
NC_000003.11:g.52821016T>C , CM000665.1:g.52821016T>C	GRCh37
NC_000003.10:g.52796056T>C	NCBI36
NG_016005.1:g.14409T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273283.7:c.1789T>C MANE Select	ENSP00000273283.2:p.Ser597Pro
ENST00000273283.6:c.1789T>C	ENSP00000273283.2:p.Ser597Pro
ENST00000428133.5:c.448T>C	ENSP00000395836.1:p.Ser150Pro
ENST00000484844.2:c.56T>C
ENST00000537050.5:c.925T>C	ENSP00000443847.1:p.Ser309Pro
ENST00000628722.2:n.1644T>C
NM_001166434.2:c.1363T>C	NP_001159906.1:p.Ser455Pro
NM_001166435.2:c.925T>C	NP_001159907.1:p.Ser309Pro
NM_001166436.2:c.925T>C	NP_001159908.1:p.Ser309Pro
NM_002215.3:c.1789T>C	NP_002206.2:p.Ser597Pro
NM_002215.4:c.1789T>C MANE Select	NP_002206.2:p.Ser597Pro
NM_001166434.3:c.1363T>C	NP_001159906.1:p.Ser455Pro