Canonical Allele Identifier: CA512663087
Gene: RIPK4 HGNC NCBI

Linked Data

gnomAD v4: 21-41741264-C-G
MyVariant Identifiers: chr21:g.43161424C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41741264C>G , CM000683.2:g.41741264C>G GRCh38
NC_000021.8:g.43161424C>G , CM000683.1:g.43161424C>G GRCh37
NC_000021.7:g.42034493C>G NCBI36
NG_032113.1:g.30826G>C
NG_032113.2:g.30826G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000332512.8:c.1929G>C MANE Select ENSP00000332454.3:p.Val643=
ENST00000332512.7:c.1929G>C ENSP00000332454.3:p.Val643=
ENST00000352483.3:c.2073G>C ENSP00000330161.2:p.Val691=
NM_020639.2:c.1929G>C NP_065690.2:p.Val643=
NM_020639.3:c.1929G>C MANE Select NP_065690.2:p.Val643=
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