Canonical Allele Identifier: CA410322533

Gene: RIPK4

Linked Data

• gnomAD v4: 21-41756680-G-T
• MyVariant Identifiers: chr21:g.43176840G>T (hg19) ; chr21:g.41756680G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.41756680G>T , CM000683.2:g.41756680G>T	GRCh38
NC_000021.8:g.43176840G>T , CM000683.1:g.43176840G>T	GRCh37
NC_000021.7:g.42049909G>T	NCBI36
NG_032113.1:g.15410C>A
NG_032113.2:g.15410C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332512.8:c.319C>A MANE Select	ENSP00000332454.3:p.Leu107Met
ENST00000332512.7:c.319C>A	ENSP00000332454.3:p.Leu107Met
ENST00000352483.3:c.319C>A	ENSP00000330161.2:p.Leu107Met
NM_020639.2:c.319C>A	NP_065690.2:p.Leu107Met
NM_020639.3:c.319C>A MANE Select	NP_065690.2:p.Leu107Met