Canonical Allele Identifier: CA410322894
Gene: RIPK4 HGNC NCBI

Linked Data

dbSNP Id: rs1470527803
gnomAD v2: 21-43176942-T-C
gnomAD v3: 21-41756782-T-C
gnomAD v4: 21-41756782-T-C
MyVariant Identifiers: chr21:g.43176942T>C (hg19) chr21:g.41756782T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41756782T>C , CM000683.2:g.41756782T>C GRCh38
NC_000021.8:g.43176942T>C , CM000683.1:g.43176942T>C GRCh37
NC_000021.7:g.42050011T>C NCBI36
NG_032113.1:g.15308A>G
NG_032113.2:g.15308A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000332512.8:c.217A>G MANE Select ENSP00000332454.3:p.Met73Val
ENST00000332512.7:c.217A>G ENSP00000332454.3:p.Met73Val
ENST00000352483.3:c.217A>G ENSP00000330161.2:p.Met73Val
NM_020639.2:c.217A>G NP_065690.2:p.Met73Val
NM_020639.3:c.217A>G MANE Select NP_065690.2:p.Met73Val
Search 100 bp 5'
Search 100 bp 3'