Canonical Allele Identifier: CA410326486
Gene: RIPK4 HGNC NCBI

Linked Data

dbSNP Id: rs1255352381
gnomAD v2: 21-43161513-G-A
gnomAD v3: 21-41741353-G-A
gnomAD v4: 21-41741353-G-A
MyVariant Identifiers: chr21:g.43161513G>A (hg19) chr21:g.41741353G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41741353G>A , CM000683.2:g.41741353G>A GRCh38
NC_000021.8:g.43161513G>A , CM000683.1:g.43161513G>A GRCh37
NC_000021.7:g.42034582G>A NCBI36
NG_032113.1:g.30737C>T
NG_032113.2:g.30737C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000332512.8:c.1840C>T MANE Select ENSP00000332454.3:p.Arg614Cys
ENST00000332512.7:c.1840C>T ENSP00000332454.3:p.Arg614Cys
ENST00000352483.3:c.1984C>T ENSP00000330161.2:p.Arg662Cys
NM_020639.2:c.1840C>T NP_065690.2:p.Arg614Cys
NM_020639.3:c.1840C>T MANE Select NP_065690.2:p.Arg614Cys
Search 100 bp 5'
Search 100 bp 3'