Canonical Allele Identifier: CA512662973

Gene: RIPK4

Linked Data

• gnomAD v4: 21-41741201-C-T
• MyVariant Identifiers: chr21:g.43161361C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.41741201C>T , CM000683.2:g.41741201C>T	GRCh38
NC_000021.8:g.43161361C>T , CM000683.1:g.43161361C>T	GRCh37
NC_000021.7:g.42034430C>T	NCBI36
NG_032113.1:g.30889G>A
NG_032113.2:g.30889G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332512.8:c.1992G>A MANE Select	ENSP00000332454.3:p.Glu664=
ENST00000332512.7:c.1992G>A	ENSP00000332454.3:p.Glu664=
ENST00000352483.3:c.2136G>A	ENSP00000330161.2:p.Glu712=
NM_020639.2:c.1992G>A	NP_065690.2:p.Glu664=
NM_020639.3:c.1992G>A MANE Select	NP_065690.2:p.Glu664=