Canonical Allele Identifier: CA1365036581

Gene: ITIH4

Linked Data

• dbSNP Id: rs1700330272
• gnomAD v4: 3-52819289-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52819289G>C , CM000665.2:g.52819289G>C	GRCh38
NC_000003.11:g.52853305G>C , CM000665.1:g.52853305G>C	GRCh37
NC_000003.10:g.52828345G>C	NCBI36
NG_016006.1:g.16413C>G
NG_016006.2:g.16413C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266041.9:c.2077+104C>G MANE Select	ENSP00000266041.4:n.2077+104C>G
ENST00000266041.8:c.2077+104C>G	ENSP00000266041.4:n.2077+104C>G
ENST00000406595.5:c.1987+104C>G	ENSP00000384425.1:n.1987+104C>G
ENST00000441637.2:c.1559+104C>G
ENST00000461966.5:n.206+104C>G
ENST00000468472.1:c.*2695C>G	ENSP00000422253.1:n.*2695C>G
ENST00000481977.5:n.274+104C>G
ENST00000485816.5:c.2092+104C>G	ENSP00000417824.1:n.2092+104C>G
ENST00000491663.5:n.2269+104C>G
ENST00000537897.5:n.2109+104C>G
NM_001166449.1:c.1987+104C>G	NP_001159921.1:n.1987+104C>G
NM_002218.4:c.2077+104C>G	NP_002209.2:n.2077+104C>G
NM_002218.5:c.2077+104C>G MANE Select	NP_002209.2:n.2077+104C>G
NM_001166449.2:c.1987+104C>G	NP_001159921.1:n.1987+104C>G