Canonical Allele Identifier: CA908186098

Gene: ITIH4

Linked Data

• dbSNP Id: rs550431815
• gnomAD v3: 3-52819307-G-C
• gnomAD v4: 3-52819307-G-C
• MyVariant Identifiers: chr3:g.52853323G>C (hg19) ; chr3:g.52819307G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52819307G>C , CM000665.2:g.52819307G>C	GRCh38
NC_000003.11:g.52853323G>C , CM000665.1:g.52853323G>C	GRCh37
NC_000003.10:g.52828363G>C	NCBI36
NG_016006.1:g.16395C>G
NG_016006.2:g.16395C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266041.9:c.2077+86C>G MANE Select	ENSP00000266041.4:n.2077+86C>G
ENST00000266041.8:c.2077+86C>G	ENSP00000266041.4:n.2077+86C>G
ENST00000406595.5:c.1987+86C>G	ENSP00000384425.1:n.1987+86C>G
ENST00000441637.2:c.1559+86C>G
ENST00000461966.5:n.206+86C>G
ENST00000468472.1:c.*2677C>G	ENSP00000422253.1:n.*2677C>G
ENST00000481977.5:n.274+86C>G
ENST00000485816.5:c.2092+86C>G	ENSP00000417824.1:n.2092+86C>G
ENST00000491663.5:n.2269+86C>G
ENST00000537897.5:n.2109+86C>G
NM_001166449.1:c.1987+86C>G	NP_001159921.1:n.1987+86C>G
NM_002218.4:c.2077+86C>G	NP_002209.2:n.2077+86C>G
NM_002218.5:c.2077+86C>G MANE Select	NP_002209.2:n.2077+86C>G
NM_001166449.2:c.1987+86C>G	NP_001159921.1:n.1987+86C>G