Canonical Allele Identifier: CA238715

Gene: NKX3-2

Linked Data

• ClinVar Variation Id: 193198
• ClinVar RCV Id: RCV000173245 ; RCV002277330
• dbSNP Id: rs536700699
• ExAC: 4:13545860 G / A
• gnomAD v2: 4-13545860-G-A
• gnomAD v3: 4-13544236-G-A
• gnomAD v4: 4-13544236-G-A
• MyVariant Identifiers: chr4:g.13545860G>A (hg19) ; chr4:g.13544236G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.13544236G>A , CM000666.2:g.13544236G>A	GRCh38
NC_000004.11:g.13545860G>A , CM000666.1:g.13545860G>A	GRCh37
NC_000004.10:g.13154958G>A	NCBI36
NG_023192.1:g.5255C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382438.6:c.179C>T MANE Select	ENSP00000371875.5:p.Ala60Val
ENST00000382438.5:c.179C>T	ENSP00000371875.5:p.Ala60Val
NM_001189.3:c.179C>T	NP_001180.1:p.Ala60Val
NM_001189.4:c.179C>T MANE Select	NP_001180.1:p.Ala60Val