Canonical Allele Identifier: CA74811673

Gene: ITIH4

Linked Data

• dbSNP Id: rs982232067
• gnomAD v2: 3-52859586-C-T
• gnomAD v3: 3-52825570-C-T
• gnomAD v4: 3-52825570-C-T
• MyVariant Identifiers: chr3:g.52859586C>T (hg19) ; chr3:g.52825570C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52825570C>T , CM000665.2:g.52825570C>T	GRCh38
NC_000003.11:g.52859586C>T , CM000665.1:g.52859586C>T	GRCh37
NC_000003.10:g.52834626C>T	NCBI36
NG_016006.1:g.10132G>A
NG_016006.2:g.10132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266041.9:c.759+316G>A MANE Select	ENSP00000266041.4:n.759+316G>A
ENST00000266041.8:c.759+316G>A	ENSP00000266041.4:n.759+316G>A
ENST00000406595.5:c.759+316G>A	ENSP00000384425.1:n.759+316G>A
ENST00000441637.2:c.331+316G>A
ENST00000468472.1:c.*891+316G>A	ENSP00000422253.1:n.*891+316G>A
ENST00000485816.5:c.759+316G>A	ENSP00000417824.1:n.759+316G>A
ENST00000491663.5:n.804+316G>A
ENST00000537897.5:n.644+316G>A
NM_001166449.1:c.759+316G>A	NP_001159921.1:n.759+316G>A
NM_002218.4:c.759+316G>A	NP_002209.2:n.759+316G>A
NM_002218.5:c.759+316G>A MANE Select	NP_002209.2:n.759+316G>A
NM_001166449.2:c.759+316G>A	NP_001159921.1:n.759+316G>A