Canonical Allele Identifier: CA74806036

Gene: ITIH4

Linked Data

• dbSNP Id: rs550431815
• gnomAD v2: 3-52853323-G-A
• gnomAD v3: 3-52819307-G-A
• gnomAD v4: 3-52819307-G-A
• MyVariant Identifiers: chr3:g.52853323G>A (hg19) ; chr3:g.52819307G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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