Canonical Allele Identifier: CA2666079690

Gene: ITIH4

Linked Data

• gnomAD v4: 3-52819249-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52819249C>T , CM000665.2:g.52819249C>T	GRCh38
NC_000003.11:g.52853265C>T , CM000665.1:g.52853265C>T	GRCh37
NC_000003.10:g.52828305C>T	NCBI36
NG_016006.1:g.16453G>A
NG_016006.2:g.16453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266041.9:c.2077+144G>A MANE Select	ENSP00000266041.4:n.2077+144G>A
ENST00000266041.8:c.2077+144G>A	ENSP00000266041.4:n.2077+144G>A
ENST00000406595.5:c.1987+144G>A	ENSP00000384425.1:n.1987+144G>A
ENST00000441637.2:c.1559+144G>A
ENST00000461966.5:n.206+144G>A
ENST00000468472.1:c.*2735G>A	ENSP00000422253.1:n.*2735G>A
ENST00000481977.5:n.274+144G>A
ENST00000485816.5:c.2092+144G>A	ENSP00000417824.1:n.2092+144G>A
ENST00000491663.5:n.2269+144G>A
ENST00000537897.5:n.2109+144G>A
NM_001166449.1:c.1987+144G>A	NP_001159921.1:n.1987+144G>A
NM_002218.4:c.2077+144G>A	NP_002209.2:n.2077+144G>A
NM_002218.5:c.2077+144G>A MANE Select	NP_002209.2:n.2077+144G>A
NM_001166449.2:c.1987+144G>A	NP_001159921.1:n.1987+144G>A