Canonical Allele Identifier: CA410326144
Gene: RIPK4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43161414T>G (hg19) chr21:g.41741254T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41741254T>G , CM000683.2:g.41741254T>G GRCh38
NC_000021.8:g.43161414T>G , CM000683.1:g.43161414T>G GRCh37
NC_000021.7:g.42034483T>G NCBI36
NG_032113.1:g.30836A>C
NG_032113.2:g.30836A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000332512.8:c.1939A>C MANE Select ENSP00000332454.3:p.Thr647Pro
ENST00000332512.7:c.1939A>C ENSP00000332454.3:p.Thr647Pro
ENST00000352483.3:c.2083A>C ENSP00000330161.2:p.Thr695Pro
NM_020639.2:c.1939A>C NP_065690.2:p.Thr647Pro
NM_020639.3:c.1939A>C MANE Select NP_065690.2:p.Thr647Pro
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