Canonical Allele Identifier: CA10035786

Gene: RIPK4

Linked Data

• ClinVar Variation Id: 895413
• ClinVar RCV Id: RCV001137505 ; RCV002556929
• dbSNP Id: rs773242499
• ExAC: 21:43176782 G / A
• gnomAD v2: 21-43176782-G-A
• gnomAD v3: 21-41756622-G-A
• gnomAD v4: 21-41756622-G-A
• COSMIC: COSM4404396 ; COSM4404397
• MyVariant Identifiers: chr21:g.43176782G>A (hg19) ; chr21:g.41756622G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.41756622G>A , CM000683.2:g.41756622G>A	GRCh38
NC_000021.8:g.43176782G>A , CM000683.1:g.43176782G>A	GRCh37
NC_000021.7:g.42049851G>A	NCBI36
NG_032113.1:g.15468C>T
NG_032113.2:g.15468C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332512.8:c.377C>T MANE Select	ENSP00000332454.3:p.Ala126Val
ENST00000332512.7:c.377C>T	ENSP00000332454.3:p.Ala126Val
ENST00000352483.3:c.377C>T	ENSP00000330161.2:p.Ala126Val
NM_020639.2:c.377C>T	NP_065690.2:p.Ala126Val
NM_020639.3:c.377C>T MANE Select	NP_065690.2:p.Ala126Val