Canonical Allele Identifier: CA321453716
Gene: RIPK4 HGNC NCBI

Linked Data

dbSNP Id: rs975688074
gnomAD v4: 21-41741263-C-T
MyVariant Identifiers: chr21:g.43161423C>T (hg19) chr21:g.41741263C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41741263C>T , CM000683.2:g.41741263C>T GRCh38
NC_000021.8:g.43161423C>T , CM000683.1:g.43161423C>T GRCh37
NC_000021.7:g.42034492C>T NCBI36
NG_032113.1:g.30827G>A
NG_032113.2:g.30827G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000332512.8:c.1930G>A MANE Select ENSP00000332454.3:p.Ala644Thr
ENST00000332512.7:c.1930G>A ENSP00000332454.3:p.Ala644Thr
ENST00000352483.3:c.2074G>A ENSP00000330161.2:p.Ala692Thr
NM_020639.2:c.1930G>A NP_065690.2:p.Ala644Thr
NM_020639.3:c.1930G>A MANE Select NP_065690.2:p.Ala644Thr
Search 100 bp 5'
Search 100 bp 3'