Canonical Allele Identifier: CA362162035
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1732255
ClinVar RCV Id: RCV002459311
gnomAD v4: 5-173233193-C-G
MyVariant Identifiers: chr5:g.172660196C>G (hg19) chr5:g.173233193C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233193C>G , CM000667.2:g.173233193C>G GRCh38
NC_000005.9:g.172660196C>G , CM000667.1:g.172660196C>G GRCh37
NC_000005.8:g.172592802C>G NCBI36
NG_013340.1:g.7120G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.351G>C MANE Select ENSP00000327758.4:p.Gln117His
ENST00000329198.4:c.351G>C ENSP00000327758.4:p.Gln117His
ENST00000424406.2:c.*304G>C ENSP00000395378.2:n.*304G>C
ENST00000521848.1:c.*150G>C ENSP00000427906.1:n.*150G>C
NM_001166175.1:c.*304G>C NP_001159647.1:n.*304G>C
NM_001166176.1:c.*150G>C NP_001159648.1:n.*150G>C
NM_004387.3:c.351G>C NP_004378.1:p.Gln117His
NM_004387.4:c.351G>C MANE Select NP_004378.1:p.Gln117His
NM_001166175.2:c.*304G>C NP_001159647.1:n.*304G>C
NM_001166176.2:c.*150G>C NP_001159648.1:n.*150G>C
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