Canonical Allele Identifier: CA512663077
Gene: RIPK4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43161418C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41741258C>G , CM000683.2:g.41741258C>G GRCh38
NC_000021.8:g.43161418C>G , CM000683.1:g.43161418C>G GRCh37
NC_000021.7:g.42034487C>G NCBI36
NG_032113.1:g.30832G>C
NG_032113.2:g.30832G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000332512.8:c.1935G>C MANE Select ENSP00000332454.3:p.Ala645=
ENST00000332512.7:c.1935G>C ENSP00000332454.3:p.Ala645=
ENST00000352483.3:c.2079G>C ENSP00000330161.2:p.Ala693=
NM_020639.2:c.1935G>C NP_065690.2:p.Ala645=
NM_020639.3:c.1935G>C MANE Select NP_065690.2:p.Ala645=