Canonical Allele Identifier: CA2449123
Gene: ITIH4 HGNC NCBI
COSMIC:
COSM5021400 (not active)
COSM5021401 (not active)
MyVariant.info:
GRCh38 chr3:g.52819385C>T
GRCh37 chr3:g.52853401C>T
gnomAD v2:
3:52853401 C / T
gnomAD v3:
3:52819385 C / T
gnomAD v4:
chr3-52819385-C-T
Joint Max Group AF 0.37788446 (NFE)
Genomes Max Group AF 0.37002056 (NFE)
Exomes Max Group AF 0.37815834 (NFE)
ClinVar RCV:
RCV000009609
ClinVar Variation:
9042
dbSNP:
3821831
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52819385C>T , CM000665.2:g.52819385C>T GRCh38
NC_000003.11:g.52853401C>T , CM000665.1:g.52853401C>T GRCh37
NC_000003.10:g.52828441C>T NCBI36
NG_016006.1:g.16317G>A
NG_016006.2:g.16317G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266041.9:c.2077+8G>A MANE Select ENSP00000266041.4:n.2077+8G>A
ENST00000266041.8:c.2077+8G>A ENSP00000266041.4:n.2077+8G>A
ENST00000406595.5:c.1987+8G>A ENSP00000384425.1:n.1987+8G>A
ENST00000441637.2:c.1559+8G>A
ENST00000461966.5:n.206+8G>A
ENST00000468472.1:c.*2599G>A ENSP00000422253.1:n.*2599G>A
ENST00000481977.5:n.274+8G>A
ENST00000485816.5:c.2092+8G>A ENSP00000417824.1:n.2092+8G>A
ENST00000491663.5:n.2269+8G>A
ENST00000537897.5:n.2109+8G>A
NM_001166449.1:c.1987+8G>A NP_001159921.1:n.1987+8G>A
NM_002218.4:c.2077+8G>A NP_002209.2:n.2077+8G>A
NM_002218.5:c.2077+8G>A MANE Select NP_002209.2:n.2077+8G>A
NM_001166449.2:c.1987+8G>A NP_001159921.1:n.1987+8G>A
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