Canonical Allele Identifier: CA638057719
Gene: RIPK4 HGNC NCBI

Linked Data

dbSNP Id: rs1297839798
gnomAD v2: 21-43177046-C-G
gnomAD v3: 21-41756886-C-G
gnomAD v4: 21-41756886-C-G
MyVariant Identifiers: chr21:g.43177046C>G (hg19) chr21:g.41756886C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41756886C>G , CM000683.2:g.41756886C>G GRCh38
NC_000021.8:g.43177046C>G , CM000683.1:g.43177046C>G GRCh37
NC_000021.7:g.42050115C>G NCBI36
NG_032113.1:g.15204G>C
NG_032113.2:g.15204G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000332512.8:c.183-70G>C MANE Select ENSP00000332454.3:n.183-70G>C
ENST00000332512.7:c.183-70G>C ENSP00000332454.3:n.183-70G>C
ENST00000352483.3:c.183-70G>C ENSP00000330161.2:n.183-70G>C
NM_020639.2:c.183-70G>C NP_065690.2:n.183-70G>C
NM_020639.3:c.183-70G>C MANE Select NP_065690.2:n.183-70G>C
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