Canonical Allele Identifier: CA512663862

Gene: RIPK4

Linked Data

• gnomAD v4: 21-41756753-C-T
• MyVariant Identifiers: chr21:g.43176913C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.41756753C>T , CM000683.2:g.41756753C>T	GRCh38
NC_000021.8:g.43176913C>T , CM000683.1:g.43176913C>T	GRCh37
NC_000021.7:g.42049982C>T	NCBI36
NG_032113.1:g.15337G>A
NG_032113.2:g.15337G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332512.8:c.246G>A MANE Select	ENSP00000332454.3:p.Leu82=
ENST00000332512.7:c.246G>A	ENSP00000332454.3:p.Leu82=
ENST00000352483.3:c.246G>A	ENSP00000330161.2:p.Leu82=
NM_020639.2:c.246G>A	NP_065690.2:p.Leu82=
NM_020639.3:c.246G>A MANE Select	NP_065690.2:p.Leu82=