Canonical Allele Identifier: CA410326509
Gene: RIPK4 HGNC NCBI

Linked Data

dbSNP Id: rs371705604
gnomAD v4: 21-41741359-C-G
MyVariant Identifiers: chr21:g.43161519C>G (hg19) chr21:g.41741359C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41741359C>G , CM000683.2:g.41741359C>G GRCh38
NC_000021.8:g.43161519C>G , CM000683.1:g.43161519C>G GRCh37
NC_000021.7:g.42034588C>G NCBI36
NG_032113.1:g.30731G>C
NG_032113.2:g.30731G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000332512.8:c.1834G>C MANE Select ENSP00000332454.3:p.Ala612Pro
ENST00000332512.7:c.1834G>C ENSP00000332454.3:p.Ala612Pro
ENST00000352483.3:c.1978G>C ENSP00000330161.2:p.Ala660Pro
NM_020639.2:c.1834G>C NP_065690.2:p.Ala612Pro
NM_020639.3:c.1834G>C MANE Select NP_065690.2:p.Ala612Pro
Search 100 bp 5'
Search 100 bp 3'