Canonical Allele Identifier: CA10035311

Gene: RIPK4

Linked Data

• ClinVar Variation Id: 340020
• ClinVar RCV Id: RCV000372810 ; RCV001572426
• dbSNP Id: rs56092943
• ExAC: 21:43161928 C / T
• gnomAD v2: 21-43161928-C-T
• gnomAD v3: 21-41741768-C-T
• gnomAD v4: 21-41741768-C-T
• MyVariant Identifiers: chr21:g.43161928C>T (hg19) ; chr21:g.41741768C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.41741768C>T , CM000683.2:g.41741768C>T	GRCh38
NC_000021.8:g.43161928C>T , CM000683.1:g.43161928C>T	GRCh37
NC_000021.7:g.42034997C>T	NCBI36
NG_032113.1:g.30322G>A
NG_032113.2:g.30322G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000332512.8:c.1425G>A MANE Select	ENSP00000332454.3:p.Leu475=
ENST00000332512.7:c.1425G>A	ENSP00000332454.3:p.Leu475=
ENST00000352483.3:c.1569G>A	ENSP00000330161.2:p.Leu523=
NM_020639.2:c.1425G>A	NP_065690.2:p.Leu475=
NM_020639.3:c.1425G>A MANE Select	NP_065690.2:p.Leu475=