Canonical Allele Identifier: CA10035138
Gene: RIPK4 HGNC NCBI

Linked Data

dbSNP Id: rs764691540
ExAC: 21:43161274 C / G
gnomAD v2: 21-43161274-C-G
MyVariant Identifiers: chr21:g.43161274C>G (hg19) chr21:g.41741114C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41741114C>G , CM000683.2:g.41741114C>G GRCh38
NC_000021.8:g.43161274C>G , CM000683.1:g.43161274C>G GRCh37
NC_000021.7:g.42034343C>G NCBI36
NG_032113.1:g.30976G>C
NG_032113.2:g.30976G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000332512.8:c.2079G>C MANE Select ENSP00000332454.3:p.Lys693Asn
ENST00000332512.7:c.2079G>C ENSP00000332454.3:p.Lys693Asn
ENST00000352483.3:c.2223G>C ENSP00000330161.2:p.Lys741Asn
NM_020639.2:c.2079G>C NP_065690.2:p.Lys693Asn
NM_020639.3:c.2079G>C MANE Select NP_065690.2:p.Lys693Asn
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