Canonical Allele Identifier: CA10035178
Gene: RIPK4 HGNC NCBI

Linked Data

ClinVar Variation Id: 744263
ClinVar RCV Id: RCV000920701
dbSNP Id: rs201057277
ExAC: 21:43161427 G / A
gnomAD v2: 21-43161427-G-A
gnomAD v3: 21-41741267-G-A
gnomAD v4: 21-41741267-G-A
MyVariant Identifiers: chr21:g.43161427G>A (hg19) chr21:g.41741267G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41741267G>A , CM000683.2:g.41741267G>A GRCh38
NC_000021.8:g.43161427G>A , CM000683.1:g.43161427G>A GRCh37
NC_000021.7:g.42034496G>A NCBI36
NG_032113.1:g.30823C>T
NG_032113.2:g.30823C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000332512.8:c.1926C>T MANE Select ENSP00000332454.3:p.His642=
ENST00000332512.7:c.1926C>T ENSP00000332454.3:p.His642=
ENST00000352483.3:c.2070C>T ENSP00000330161.2:p.His690=
NM_020639.2:c.1926C>T NP_065690.2:p.His642=
NM_020639.3:c.1926C>T MANE Select NP_065690.2:p.His642=
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