Canonical Allele Identifier: CA512662907
Gene: RIPK4 HGNC NCBI

Linked Data

dbSNP Id: rs1392047933
gnomAD v2: 21-43161322-A-T
gnomAD v4: 21-41741162-A-T
MyVariant Identifiers: chr21:g.43161322A>T (hg19) chr21:g.41741162A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41741162A>T , CM000683.2:g.41741162A>T GRCh38
NC_000021.8:g.43161322A>T , CM000683.1:g.43161322A>T GRCh37
NC_000021.7:g.42034391A>T NCBI36
NG_032113.1:g.30928T>A
NG_032113.2:g.30928T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000332512.8:c.2031T>A MANE Select ENSP00000332454.3:p.Ala677=
ENST00000332512.7:c.2031T>A ENSP00000332454.3:p.Ala677=
ENST00000352483.3:c.2175T>A ENSP00000330161.2:p.Ala725=
NM_020639.2:c.2031T>A NP_065690.2:p.Ala677=
NM_020639.3:c.2031T>A MANE Select NP_065690.2:p.Ala677=
Search 100 bp 5'
Search 100 bp 3'