Canonical Allele Identifier: CA321414462
Gene: RIPK4 HGNC NCBI

Linked Data

dbSNP Id: rs965711906
gnomAD v2: 21-43176453-A-C
gnomAD v3: 21-41756293-A-C
gnomAD v4: 21-41756293-A-C
MyVariant Identifiers: chr21:g.43176453A>C (hg19) chr21:g.41756293A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41756293A>C , CM000683.2:g.41756293A>C GRCh38
NC_000021.8:g.43176453A>C , CM000683.1:g.43176453A>C GRCh37
NC_000021.7:g.42049522A>C NCBI36
NG_032113.1:g.15797T>G
NG_032113.2:g.15797T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000332512.8:c.474+232T>G MANE Select ENSP00000332454.3:n.474+232T>G
ENST00000332512.7:c.474+232T>G ENSP00000332454.3:n.474+232T>G
ENST00000352483.3:c.474+232T>G ENSP00000330161.2:n.474+232T>G
NM_020639.2:c.474+232T>G NP_065690.2:n.474+232T>G
NM_020639.3:c.474+232T>G MANE Select NP_065690.2:n.474+232T>G
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