Canonical Allele Identifier: CA321453591
Gene: RIPK4 HGNC NCBI

Linked Data

dbSNP Id: rs750371364
MyVariant Identifiers: chr21:g.43161318G>C (hg19) chr21:g.41741158G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41741158G>C , CM000683.2:g.41741158G>C GRCh38
NC_000021.8:g.43161318G>C , CM000683.1:g.43161318G>C GRCh37
NC_000021.7:g.42034387G>C NCBI36
NG_032113.1:g.30932C>G
NG_032113.2:g.30932C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000332512.8:c.2035C>G MANE Select ENSP00000332454.3:p.Arg679Gly
ENST00000332512.7:c.2035C>G ENSP00000332454.3:p.Arg679Gly
ENST00000352483.3:c.2179C>G ENSP00000330161.2:p.Arg727Gly
NM_020639.2:c.2035C>G NP_065690.2:p.Arg679Gly
NM_020639.3:c.2035C>G MANE Select NP_065690.2:p.Arg679Gly
Search 100 bp 5'
Search 100 bp 3'