Canonical Allele Identifier: CA16605325
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 390482
ClinVar RCV Id: RCV000428074 RCV003619678
dbSNP Id: rs773922431
MyVariant Identifiers: chr5:g.172659846G>T (hg19) chr5:g.173232843G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232843G>T , CM000667.2:g.173232843G>T GRCh38
NC_000005.9:g.172659846G>T , CM000667.1:g.172659846G>T GRCh37
NC_000005.8:g.172592452G>T NCBI36
NG_013340.1:g.7470C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.701C>A MANE Select ENSP00000327758.4:p.Ser234Ter
ENST00000329198.4:c.701C>A ENSP00000327758.4:p.Ser234Ter
NM_001166175.1:c.*654C>A NP_001159647.1:n.*654C>A
NM_001166176.1:c.*500C>A NP_001159648.1:n.*500C>A
NM_004387.3:c.701C>A NP_004378.1:p.Ser234Ter
NM_004387.4:c.701C>A MANE Select NP_004378.1:p.Ser234Ter
NM_001166175.2:c.*654C>A NP_001159647.1:n.*654C>A
NM_001166176.2:c.*500C>A NP_001159648.1:n.*500C>A
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