Canonical Allele Identifier: CA362161342
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1756424
ClinVar RCV Id: RCV002364643
gnomAD v4: 5-173232847-C-G
MyVariant Identifiers: chr5:g.172659850C>G (hg19) chr5:g.173232847C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232847C>G , CM000667.2:g.173232847C>G GRCh38
NC_000005.9:g.172659850C>G , CM000667.1:g.172659850C>G GRCh37
NC_000005.8:g.172592456C>G NCBI36
NG_013340.1:g.7466G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.697G>C MANE Select ENSP00000327758.4:p.Asp233His
ENST00000329198.4:c.697G>C ENSP00000327758.4:p.Asp233His
NM_001166175.1:c.*650G>C NP_001159647.1:n.*650G>C
NM_001166176.1:c.*496G>C NP_001159648.1:n.*496G>C
NM_004387.3:c.697G>C NP_004378.1:p.Asp233His
NM_004387.4:c.697G>C MANE Select NP_004378.1:p.Asp233His
NM_001166175.2:c.*650G>C NP_001159647.1:n.*650G>C
NM_001166176.2:c.*496G>C NP_001159648.1:n.*496G>C
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