Canonical Allele Identifier: CA410322676
Gene: RIPK4 HGNC NCBI

Linked Data

dbSNP Id: rs1270680412
gnomAD v2: 21-43176893-C-T
gnomAD v4: 21-41756733-C-T
COSMIC: COSM4421917 COSM4421918
MyVariant Identifiers: chr21:g.43176893C>T (hg19) chr21:g.41756733C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41756733C>T , CM000683.2:g.41756733C>T GRCh38
NC_000021.8:g.43176893C>T , CM000683.1:g.43176893C>T GRCh37
NC_000021.7:g.42049962C>T NCBI36
NG_032113.1:g.15357G>A
NG_032113.2:g.15357G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332512.8:c.266G>A MANE Select ENSP00000332454.3:p.Arg89His
ENST00000332512.7:c.266G>A ENSP00000332454.3:p.Arg89His
ENST00000352483.3:c.266G>A ENSP00000330161.2:p.Arg89His
NM_020639.2:c.266G>A NP_065690.2:p.Arg89His
NM_020639.3:c.266G>A MANE Select NP_065690.2:p.Arg89His
Search 100 bp 5'
Search 100 bp 3'