Canonical Allele Identifier: CA447975046
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1134964
ClinVar RCV Id: RCV001470062 RCV002350960
dbSNP Id: rs1315138203
gnomAD v2: 5-172660013-C-T
gnomAD v3: 5-173233010-C-T
gnomAD v4: 5-173233010-C-T
MyVariant Identifiers: chr5:g.172660013C>T (hg19) chr5:g.173233010C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233010C>T , CM000667.2:g.173233010C>T GRCh38
NC_000005.9:g.172660013C>T , CM000667.1:g.172660013C>T GRCh37
NC_000005.8:g.172592619C>T NCBI36
NG_013340.1:g.7303G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.534G>A MANE Select ENSP00000327758.4:p.Thr178=
ENST00000329198.4:c.534G>A ENSP00000327758.4:p.Thr178=
ENST00000424406.2:c.*487G>A ENSP00000395378.2:n.*487G>A
ENST00000521848.1:c.*333G>A ENSP00000427906.1:n.*333G>A
NM_001166175.1:c.*487G>A NP_001159647.1:n.*487G>A
NM_001166176.1:c.*333G>A NP_001159648.1:n.*333G>A
NM_004387.3:c.534G>A NP_004378.1:p.Thr178=
NM_004387.4:c.534G>A MANE Select NP_004378.1:p.Thr178=
NM_001166175.2:c.*487G>A NP_001159647.1:n.*487G>A
NM_001166176.2:c.*333G>A NP_001159648.1:n.*333G>A
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