Canonical Allele Identifier: CA410326422

Gene: RIPK4

Linked Data

• MyVariant Identifiers: chr21:g.43161497A>G (hg19) ; chr21:g.41741337A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.41741337A>G , CM000683.2:g.41741337A>G	GRCh38
NC_000021.8:g.43161497A>G , CM000683.1:g.43161497A>G	GRCh37
NC_000021.7:g.42034566A>G	NCBI36
NG_032113.1:g.30753T>C
NG_032113.2:g.30753T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332512.8:c.1856T>C MANE Select	ENSP00000332454.3:p.Val619Ala
ENST00000332512.7:c.1856T>C	ENSP00000332454.3:p.Val619Ala
ENST00000352483.3:c.2000T>C	ENSP00000330161.2:p.Val667Ala
NM_020639.2:c.1856T>C	NP_065690.2:p.Val619Ala
NM_020639.3:c.1856T>C MANE Select	NP_065690.2:p.Val619Ala