Canonical Allele Identifier: CA200399

Gene: NKX3-2

Linked Data

• ClinVar Variation Id: 193201
• ClinVar RCV Id: RCV000173248 ; RCV001510426 ; RCV001781533
• dbSNP Id: rs9684692
• ExAC: 4:13545792 G / T
• gnomAD v2: 4-13545792-G-T
• gnomAD v3: 4-13544168-G-T
• gnomAD v4: 4-13544168-G-T
• MyVariant Identifiers: chr4:g.13545792G>T (hg19) ; chr4:g.13544168G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.13544168G>T , CM000666.2:g.13544168G>T	GRCh38
NC_000004.11:g.13545792G>T , CM000666.1:g.13545792G>T	GRCh37
NC_000004.10:g.13154890G>T	NCBI36
NG_023192.1:g.5323C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382438.6:c.247C>A MANE Select	ENSP00000371875.5:p.Arg83=
ENST00000382438.5:c.247C>A	ENSP00000371875.5:p.Arg83=
NM_001189.3:c.247C>A	NP_001180.1:p.Arg83=
NM_001189.4:c.247C>A MANE Select	NP_001180.1:p.Arg83=