Canonical Allele Identifier: CA3563717

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 372743
• ClinVar RCV Id: RCV000414455 ; RCV001321327 ; RCV002223836 ; RCV002450952 ; RCV002488852
• dbSNP Id: rs369025518
• ExAC: 5:172660191 G / T
• gnomAD v2: 5-172660191-G-T
• gnomAD v3: 5-173233188-G-T
• gnomAD v4: 5-173233188-G-T
• MyVariant Identifiers: chr5:g.172660191G>T (hg19) ; chr5:g.173233188G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233188G>T , CM000667.2:g.173233188G>T	GRCh38
NC_000005.9:g.172660191G>T , CM000667.1:g.172660191G>T	GRCh37
NC_000005.8:g.172592797G>T	NCBI36
NG_013340.1:g.7125C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.356C>A MANE Select	ENSP00000327758.4:p.Ala119Glu
ENST00000329198.4:c.356C>A	ENSP00000327758.4:p.Ala119Glu
ENST00000424406.2:c.*309C>A	ENSP00000395378.2:n.*309C>A
ENST00000521848.1:c.*155C>A	ENSP00000427906.1:n.*155C>A
NM_001166175.1:c.*309C>A	NP_001159647.1:n.*309C>A
NM_001166176.1:c.*155C>A	NP_001159648.1:n.*155C>A
NM_004387.3:c.356C>A	NP_004378.1:p.Ala119Glu
NM_004387.4:c.356C>A MANE Select	NP_004378.1:p.Ala119Glu
NM_001166175.2:c.*309C>A	NP_001159647.1:n.*309C>A
NM_001166176.2:c.*155C>A	NP_001159648.1:n.*155C>A