Canonical Allele Identifier: CA3563594
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1112242
ClinVar RCV Id: RCV001439165 RCV002377713
dbSNP Id: rs748311298
ExAC: 5:172659608 C / T
gnomAD v2: 5-172659608-C-T
gnomAD v3: 5-173232605-C-T
gnomAD v4: 5-173232605-C-T
MyVariant Identifiers: chr5:g.172659608C>T (hg19) chr5:g.173232605C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232605C>T , CM000667.2:g.173232605C>T GRCh38
NC_000005.9:g.172659608C>T , CM000667.1:g.172659608C>T GRCh37
NC_000005.8:g.172592214C>T NCBI36
NG_013340.1:g.7708G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.939G>A MANE Select ENSP00000327758.4:p.Ser313=
ENST00000329198.4:c.939G>A ENSP00000327758.4:p.Ser313=
NM_001166175.1:c.*892G>A NP_001159647.1:n.*892G>A
NM_001166176.1:c.*738G>A NP_001159648.1:n.*738G>A
NM_004387.3:c.939G>A NP_004378.1:p.Ser313=
NM_004387.4:c.939G>A MANE Select NP_004378.1:p.Ser313=
NM_001166175.2:c.*892G>A NP_001159647.1:n.*892G>A
NM_001166176.2:c.*738G>A NP_001159648.1:n.*738G>A
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