Canonical Allele Identifier: CA10035820
Gene: RIPK4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2552660
ClinVar RCV Id: RCV003287994
dbSNP Id: rs777609679
ExAC: 21:43176935 A / T
gnomAD v2: 21-43176935-A-T
gnomAD v4: 21-41756775-A-T
MyVariant Identifiers: chr21:g.43176935A>T (hg19) chr21:g.41756775A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41756775A>T , CM000683.2:g.41756775A>T GRCh38
NC_000021.8:g.43176935A>T , CM000683.1:g.43176935A>T GRCh37
NC_000021.7:g.42050004A>T NCBI36
NG_032113.1:g.15315T>A
NG_032113.2:g.15315T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332512.8:c.224T>A MANE Select ENSP00000332454.3:p.Met75Lys
ENST00000332512.7:c.224T>A ENSP00000332454.3:p.Met75Lys
ENST00000352483.3:c.224T>A ENSP00000330161.2:p.Met75Lys
NM_020639.2:c.224T>A NP_065690.2:p.Met75Lys
NM_020639.3:c.224T>A MANE Select NP_065690.2:p.Met75Lys
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