Canonical Allele Identifier: CA410322866

Gene: RIPK4

Linked Data

• dbSNP Id: rs2061204906
• MyVariant Identifiers: chr21:g.43176930T>C (hg19) ; chr21:g.41756770T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.41756770T>C , CM000683.2:g.41756770T>C	GRCh38
NC_000021.8:g.43176930T>C , CM000683.1:g.43176930T>C	GRCh37
NC_000021.7:g.42049999T>C	NCBI36
NG_032113.1:g.15320A>G
NG_032113.2:g.15320A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332512.8:c.229A>G MANE Select	ENSP00000332454.3:p.Lys77Glu
ENST00000332512.7:c.229A>G	ENSP00000332454.3:p.Lys77Glu
ENST00000352483.3:c.229A>G	ENSP00000330161.2:p.Lys77Glu
NM_020639.2:c.229A>G	NP_065690.2:p.Lys77Glu
NM_020639.3:c.229A>G MANE Select	NP_065690.2:p.Lys77Glu