Canonical Allele Identifier: CA10035153
Gene: RIPK4 HGNC NCBI

Linked Data

dbSNP Id: rs374389446
ExAC: 21:43161321 C / T
gnomAD v2: 21-43161321-C-T
gnomAD v4: 21-41741161-C-T
MyVariant Identifiers: chr21:g.43161321C>T (hg19) chr21:g.41741161C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41741161C>T , CM000683.2:g.41741161C>T GRCh38
NC_000021.8:g.43161321C>T , CM000683.1:g.43161321C>T GRCh37
NC_000021.7:g.42034390C>T NCBI36
NG_032113.1:g.30929G>A
NG_032113.2:g.30929G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000332512.8:c.2032G>A MANE Select ENSP00000332454.3:p.Ala678Thr
ENST00000332512.7:c.2032G>A ENSP00000332454.3:p.Ala678Thr
ENST00000352483.3:c.2176G>A ENSP00000330161.2:p.Ala726Thr
NM_020639.2:c.2032G>A NP_065690.2:p.Ala678Thr
NM_020639.3:c.2032G>A MANE Select NP_065690.2:p.Ala678Thr
Search 100 bp 5'
Search 100 bp 3'