Canonical Allele Identifier: CA410325828
Gene: RIPK4 HGNC NCBI

Linked Data

dbSNP Id: rs1443843296
gnomAD v2: 21-43161323-G-A
MyVariant Identifiers: chr21:g.43161323G>A (hg19) chr21:g.41741163G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41741163G>A , CM000683.2:g.41741163G>A GRCh38
NC_000021.8:g.43161323G>A , CM000683.1:g.43161323G>A GRCh37
NC_000021.7:g.42034392G>A NCBI36
NG_032113.1:g.30927C>T
NG_032113.2:g.30927C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000332512.8:c.2030C>T MANE Select ENSP00000332454.3:p.Ala677Val
ENST00000332512.7:c.2030C>T ENSP00000332454.3:p.Ala677Val
ENST00000352483.3:c.2174C>T ENSP00000330161.2:p.Ala725Val
NM_020639.2:c.2030C>T NP_065690.2:p.Ala677Val
NM_020639.3:c.2030C>T MANE Select NP_065690.2:p.Ala677Val
Search 100 bp 5'
Search 100 bp 3'