Canonical Allele Identifier: CA74811639

Gene: ITIH4

Linked Data

• dbSNP Id: rs187887628
• gnomAD v2: 3-52859538-T-A
• gnomAD v3: 3-52825522-T-A
• gnomAD v4: 3-52825522-T-A
• MyVariant Identifiers: chr3:g.52859538T>A (hg19) ; chr3:g.52825522T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52825522T>A , CM000665.2:g.52825522T>A	GRCh38
NC_000003.11:g.52859538T>A , CM000665.1:g.52859538T>A	GRCh37
NC_000003.10:g.52834578T>A	NCBI36
NG_016006.1:g.10180A>T
NG_016006.2:g.10180A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000266041.9:c.759+364A>T MANE Select	ENSP00000266041.4:n.759+364A>T
ENST00000266041.8:c.759+364A>T	ENSP00000266041.4:n.759+364A>T
ENST00000406595.5:c.759+364A>T	ENSP00000384425.1:n.759+364A>T
ENST00000441637.2:c.331+364A>T
ENST00000468472.1:c.*891+364A>T	ENSP00000422253.1:n.*891+364A>T
ENST00000485816.5:c.759+364A>T	ENSP00000417824.1:n.759+364A>T
ENST00000491663.5:n.804+364A>T
ENST00000537897.5:n.644+364A>T
NM_001166449.1:c.759+364A>T	NP_001159921.1:n.759+364A>T
NM_002218.4:c.759+364A>T	NP_002209.2:n.759+364A>T
NM_002218.5:c.759+364A>T MANE Select	NP_002209.2:n.759+364A>T
NM_001166449.2:c.759+364A>T	NP_001159921.1:n.759+364A>T