Canonical Allele Identifier: CA170785
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 156161
ClinVar RCV Id: RCV000144179 RCV000644453 RCV000617639 RCV003430707 RCV003318350
dbSNP Id: rs587782931
ExAC: 5:172659738 C / T
gnomAD v2: 5-172659738-C-T
gnomAD v3: 5-173232735-C-T
gnomAD v4: 5-173232735-C-T
MyVariant Identifiers: chr5:g.172659738C>T (hg19) chr5:g.173232735C>T (hg38)
PubMed: PMID:19948535 PMID:25742962
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232735C>T , CM000667.2:g.173232735C>T GRCh38
NC_000005.9:g.172659738C>T , CM000667.1:g.172659738C>T GRCh37
NC_000005.8:g.172592344C>T NCBI36
NG_013340.1:g.7578G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.809G>A MANE Select ENSP00000327758.4:p.Cys270Tyr
ENST00000329198.4:c.809G>A ENSP00000327758.4:p.Cys270Tyr
NM_001166175.1:c.*762G>A NP_001159647.1:n.*762G>A
NM_001166176.1:c.*608G>A NP_001159648.1:n.*608G>A
NM_004387.3:c.809G>A NP_004378.1:p.Cys270Tyr
NM_004387.4:c.809G>A MANE Select NP_004378.1:p.Cys270Tyr
NM_001166175.2:c.*762G>A NP_001159647.1:n.*762G>A
NM_001166176.2:c.*608G>A NP_001159648.1:n.*608G>A
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