Canonical Allele Identifier: CA3563714
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1439076
ClinVar RCV Id: RCV001934418 RCV002484696
dbSNP Id: rs781260821
ExAC: 5:172660177 T / C
gnomAD v2: 5-172660177-T-C
gnomAD v3: 5-173233174-T-C
gnomAD v4: 5-173233174-T-C
MyVariant Identifiers: chr5:g.172660177T>C (hg19) chr5:g.173233174T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233174T>C , CM000667.2:g.173233174T>C GRCh38
NC_000005.9:g.172660177T>C , CM000667.1:g.172660177T>C GRCh37
NC_000005.8:g.172592783T>C NCBI36
NG_013340.1:g.7139A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.370A>G MANE Select ENSP00000327758.4:p.Lys124Glu
ENST00000329198.4:c.370A>G ENSP00000327758.4:p.Lys124Glu
ENST00000424406.2:c.*323A>G ENSP00000395378.2:n.*323A>G
ENST00000521848.1:c.*169A>G ENSP00000427906.1:n.*169A>G
NM_001166175.1:c.*323A>G NP_001159647.1:n.*323A>G
NM_001166176.1:c.*169A>G NP_001159648.1:n.*169A>G
NM_004387.3:c.370A>G NP_004378.1:p.Lys124Glu
NM_004387.4:c.370A>G MANE Select NP_004378.1:p.Lys124Glu
NM_001166175.2:c.*323A>G NP_001159647.1:n.*323A>G
NM_001166176.2:c.*169A>G NP_001159648.1:n.*169A>G
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