Canonical Allele Identifier: CA4677886
Gene: NKX3-1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2592445
ClinVar RCV Id: RCV004335305
dbSNP Id: rs767428389
ExAC: 8:23540259 G / C
gnomAD v2: 8-23540259-G-C
gnomAD v4: 8-23682746-G-C
MyVariant Identifiers: chr8:g.23540259G>C (hg19) chr8:g.23682746G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.23682746G>C , CM000670.2:g.23682746G>C GRCh38
NC_000008.10:g.23540259G>C , CM000670.1:g.23540259G>C GRCh37
NC_000008.9:g.23596204G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000380871.5:c.144C>G MANE Select ENSP00000370253.4:p.Ser48Arg
ENST00000380871.4:c.144C>G ENSP00000370253.4:p.Ser48Arg
ENST00000523261.1:c.33+111C>G ENSP00000429729.1:n.33+111C>G
NM_001256339.1:c.33+111C>G NP_001243268.1:n.33+111C>G
NM_006167.3:c.144C>G NP_006158.2:p.Ser48Arg
NR_046072.1:n.18+158C>G
XR_001745842.1:n.1312+13996G>C
NM_006167.4:c.144C>G MANE Select NP_006158.2:p.Ser48Arg
NR_046072.2:n.35+158C>G
Search 100 bp 5'
Search 100 bp 3'