Canonical Allele Identifier: CA10035132

Gene: RIPK4

Linked Data

• ClinVar Variation Id: 235557
• ClinVar RCV Id: RCV000224013 ; RCV001140285 ; RCV003919909
• dbSNP Id: rs35537517
• ExAC: 21:43161252 G / A
• gnomAD v2: 21-43161252-G-A
• gnomAD v3: 21-41741092-G-A
• gnomAD v4: 21-41741092-G-A
• MyVariant Identifiers: chr21:g.43161252G>A (hg19) ; chr21:g.41741092G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.41741092G>A , CM000683.2:g.41741092G>A	GRCh38
NC_000021.8:g.43161252G>A , CM000683.1:g.43161252G>A	GRCh37
NC_000021.7:g.42034321G>A	NCBI36
NG_032113.1:g.30998C>T
NG_032113.2:g.30998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332512.8:c.2101C>T MANE Select	ENSP00000332454.3:p.Pro701Ser
ENST00000332512.7:c.2101C>T	ENSP00000332454.3:p.Pro701Ser
ENST00000352483.3:c.2245C>T	ENSP00000330161.2:p.Pro749Ser
NM_020639.2:c.2101C>T	NP_065690.2:p.Pro701Ser
NM_020639.3:c.2101C>T MANE Select	NP_065690.2:p.Pro701Ser