Canonical Allele Identifier: CA1365020097

Gene: ITIH1

Linked Data

• dbSNP Id: rs1699121681

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52783630C>T , CM000665.2:g.52783630C>T	GRCh38
NC_000003.11:g.52817646C>T , CM000665.1:g.52817646C>T	GRCh37
NC_000003.10:g.52792686C>T	NCBI36
NG_016005.1:g.11039C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000273283.7:c.1225+291C>T MANE Select	ENSP00000273283.2:n.1225+291C>T
ENST00000273283.6:c.1225+291C>T	ENSP00000273283.2:n.1225+291C>T
ENST00000537050.5:c.361+291C>T	ENSP00000443847.1:n.361+291C>T
ENST00000628722.2:n.1080+291C>T
NM_001166434.2:c.799+291C>T	NP_001159906.1:n.799+291C>T
NM_001166435.2:c.361+291C>T	NP_001159907.1:n.361+291C>T
NM_001166436.2:c.361+291C>T	NP_001159908.1:n.361+291C>T
NM_002215.3:c.1225+291C>T	NP_002206.2:n.1225+291C>T
NM_002215.4:c.1225+291C>T MANE Select	NP_002206.2:n.1225+291C>T
NM_001166434.3:c.799+291C>T	NP_001159906.1:n.799+291C>T