Canonical Allele Identifier: CA3563653
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1758695
ClinVar RCV Id: RCV002380491
dbSNP Id: rs780348618
ExAC: 5:172659808 G / T
gnomAD v2: 5-172659808-G-T
gnomAD v3: 5-173232805-G-T
gnomAD v4: 5-173232805-G-T
MyVariant Identifiers: chr5:g.172659808G>T (hg19) chr5:g.173232805G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232805G>T , CM000667.2:g.173232805G>T GRCh38
NC_000005.9:g.172659808G>T , CM000667.1:g.172659808G>T GRCh37
NC_000005.8:g.172592414G>T NCBI36
NG_013340.1:g.7508C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.739C>A MANE Select ENSP00000327758.4:p.Pro247Thr
ENST00000329198.4:c.739C>A ENSP00000327758.4:p.Pro247Thr
NM_001166175.1:c.*692C>A NP_001159647.1:n.*692C>A
NM_001166176.1:c.*538C>A NP_001159648.1:n.*538C>A
NM_004387.3:c.739C>A NP_004378.1:p.Pro247Thr
NM_004387.4:c.739C>A MANE Select NP_004378.1:p.Pro247Thr
NM_001166175.2:c.*692C>A NP_001159647.1:n.*692C>A
NM_001166176.2:c.*538C>A NP_001159648.1:n.*538C>A
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