Canonical Allele Identifier: CA279909
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 219168
ClinVar RCV Id: RCV000203502
dbSNP Id: rs864321648
gnomAD v4: 5-173233153-C-T
MyVariant Identifiers: chr5:g.172660156C>T (hg19) chr5:g.173233153C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233153C>T , CM000667.2:g.173233153C>T GRCh38
NC_000005.9:g.172660156C>T , CM000667.1:g.172660156C>T GRCh37
NC_000005.8:g.172592762C>T NCBI36
NG_013340.1:g.7160G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.391G>A MANE Select ENSP00000327758.4:p.Glu131Lys
ENST00000329198.4:c.391G>A ENSP00000327758.4:p.Glu131Lys
ENST00000424406.2:c.*344G>A ENSP00000395378.2:n.*344G>A
ENST00000521848.1:c.*190G>A ENSP00000427906.1:n.*190G>A
NM_001166175.1:c.*344G>A NP_001159647.1:n.*344G>A
NM_001166176.1:c.*190G>A NP_001159648.1:n.*190G>A
NM_004387.3:c.391G>A NP_004378.1:p.Glu131Lys
NM_004387.4:c.391G>A MANE Select NP_004378.1:p.Glu131Lys
NM_001166175.2:c.*344G>A NP_001159647.1:n.*344G>A
NM_001166176.2:c.*190G>A NP_001159648.1:n.*190G>A
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