Canonical Allele Identifier: CA10035790
Gene: RIPK4 HGNC NCBI

Linked Data

ClinVar Variation Id: 340031
ClinVar RCV Id: RCV000317325 RCV001672603
dbSNP Id: rs13049286
ExAC: 21:43176799 T / G
gnomAD v2: 21-43176799-T-G
gnomAD v3: 21-41756639-T-G
gnomAD v4: 21-41756639-T-G
MyVariant Identifiers: chr21:g.43176799T>G (hg19) chr21:g.41756639T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41756639T>G , CM000683.2:g.41756639T>G GRCh38
NC_000021.8:g.43176799T>G , CM000683.1:g.43176799T>G GRCh37
NC_000021.7:g.42049868T>G NCBI36
NG_032113.1:g.15451A>C
NG_032113.2:g.15451A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000332512.8:c.360A>C MANE Select ENSP00000332454.3:p.Arg120=
ENST00000332512.7:c.360A>C ENSP00000332454.3:p.Arg120=
ENST00000352483.3:c.360A>C ENSP00000330161.2:p.Arg120=
NM_020639.2:c.360A>C NP_065690.2:p.Arg120=
NM_020639.3:c.360A>C MANE Select NP_065690.2:p.Arg120=
Search 100 bp 5'
Search 100 bp 3'