Canonical Allele Identifier: CA410322219

Gene: RIPK4

Linked Data

• MyVariant Identifiers: chr21:g.43176705C>T (hg19) ; chr21:g.41756545C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.41756545C>T , CM000683.2:g.41756545C>T	GRCh38
NC_000021.8:g.43176705C>T , CM000683.1:g.43176705C>T	GRCh37
NC_000021.7:g.42049774C>T	NCBI36
NG_032113.1:g.15545G>A
NG_032113.2:g.15545G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332512.8:c.454G>A MANE Select	ENSP00000332454.3:p.Asp152Asn
ENST00000332512.7:c.454G>A	ENSP00000332454.3:p.Asp152Asn
ENST00000352483.3:c.454G>A	ENSP00000330161.2:p.Asp152Asn
NM_020639.2:c.454G>A	NP_065690.2:p.Asp152Asn
NM_020639.3:c.454G>A MANE Select	NP_065690.2:p.Asp152Asn