Canonical Allele Identifier: CA512662902
Gene: RIPK4 HGNC NCBI

Linked Data

dbSNP Id: rs1456927555
gnomAD v2: 21-43161319-G-A
gnomAD v4: 21-41741159-G-A
MyVariant Identifiers: chr21:g.43161319G>A (hg19) chr21:g.41741159G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41741159G>A , CM000683.2:g.41741159G>A GRCh38
NC_000021.8:g.43161319G>A , CM000683.1:g.43161319G>A GRCh37
NC_000021.7:g.42034388G>A NCBI36
NG_032113.1:g.30931C>T
NG_032113.2:g.30931C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000332512.8:c.2034C>T MANE Select ENSP00000332454.3:p.Ala678=
ENST00000332512.7:c.2034C>T ENSP00000332454.3:p.Ala678=
ENST00000352483.3:c.2178C>T ENSP00000330161.2:p.Ala726=
NM_020639.2:c.2034C>T NP_065690.2:p.Ala678=
NM_020639.3:c.2034C>T MANE Select NP_065690.2:p.Ala678=
Search 100 bp 5'
Search 100 bp 3'