Canonical Allele Identifier: CA3563679
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 681683
ClinVar RCV Id: RCV000841633 RCV001463535 RCV002495203 RCV002352489
dbSNP Id: rs376792087
ExAC: 5:172659938 C / T
gnomAD v2: 5-172659938-C-T
gnomAD v3: 5-173232935-C-T
gnomAD v4: 5-173232935-C-T
MyVariant Identifiers: chr5:g.172659938C>T (hg19) chr5:g.173232935C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232935C>T , CM000667.2:g.173232935C>T GRCh38
NC_000005.9:g.172659938C>T , CM000667.1:g.172659938C>T GRCh37
NC_000005.8:g.172592544C>T NCBI36
NG_013340.1:g.7378G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.609G>A MANE Select ENSP00000327758.4:p.Glu203=
ENST00000329198.4:c.609G>A ENSP00000327758.4:p.Glu203=
ENST00000424406.2:c.*562G>A ENSP00000395378.2:n.*562G>A
ENST00000521848.1:c.*408G>A ENSP00000427906.1:n.*408G>A
NM_001166175.1:c.*562G>A NP_001159647.1:n.*562G>A
NM_001166176.1:c.*408G>A NP_001159648.1:n.*408G>A
NM_004387.3:c.609G>A NP_004378.1:p.Glu203=
NM_004387.4:c.609G>A MANE Select NP_004378.1:p.Glu203=
NM_001166175.2:c.*562G>A NP_001159647.1:n.*562G>A
NM_001166176.2:c.*408G>A NP_001159648.1:n.*408G>A
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