Canonical Allele Identifier: CA10035439
Gene: RIPK4 HGNC NCBI

Linked Data

ClinVar Variation Id: 340025
ClinVar RCV Id: RCV000305757 RCV002523180
dbSNP Id: rs187728866
ExAC: 21:43164278 C / T
gnomAD v2: 21-43164278-C-T
gnomAD v3: 21-41744118-C-T
gnomAD v4: 21-41744118-C-T
MyVariant Identifiers: chr21:g.43164278C>T (hg19) chr21:g.41744118C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41744118C>T , CM000683.2:g.41744118C>T GRCh38
NC_000021.8:g.43164278C>T , CM000683.1:g.43164278C>T GRCh37
NC_000021.7:g.42037347C>T NCBI36
NG_032113.1:g.27972G>A
NG_032113.2:g.27972G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332512.8:c.959G>A MANE Select ENSP00000332454.3:p.Arg320Gln
ENST00000332512.7:c.959G>A ENSP00000332454.3:p.Arg320Gln
ENST00000352483.3:c.1103G>A ENSP00000330161.2:p.Arg368Gln
NM_020639.2:c.959G>A NP_065690.2:p.Arg320Gln
NM_020639.3:c.959G>A MANE Select NP_065690.2:p.Arg320Gln
Search 100 bp 5'
Search 100 bp 3'