Canonical Allele Identifier: CA512663120

Gene: RIPK4

Linked Data

• gnomAD v4: 21-41741057-G-A
• MyVariant Identifiers: chr21:g.43161217G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.41741057G>A , CM000683.2:g.41741057G>A	GRCh38
NC_000021.8:g.43161217G>A , CM000683.1:g.43161217G>A	GRCh37
NC_000021.7:g.42034286G>A	NCBI36
NG_032113.1:g.31033C>T
NG_032113.2:g.31033C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332512.8:c.2136C>T MANE Select	ENSP00000332454.3:p.Ala712=
ENST00000332512.7:c.2136C>T	ENSP00000332454.3:p.Ala712=
ENST00000352483.3:c.2280C>T	ENSP00000330161.2:p.Ala760=
NM_020639.2:c.2136C>T	NP_065690.2:p.Ala712=
NM_020639.3:c.2136C>T MANE Select	NP_065690.2:p.Ala712=