Canonical Allele Identifier: CA3563667
Gene: NKX2-5 HGNC NCBI
ClinVar RCV:
RCV000644451
RCV002360590
ClinVar Variation:
536138
dbSNP:
760305842
gnomAD v2:
5:172659892 C / T
gnomAD v3:
5:173232889 C / T
gnomAD v4:
chr5-173232889-C-T
Joint Max Group AF 0.00003589 (NFE)
Exomes Max Group AF 0.00003722 (NFE)
MyVariant.info:
GRCh38 chr5:g.173232889C>T
GRCh37 chr5:g.172659892C>T
Revel Score:
ENST00000329198 (MANE Select) 0.627
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232889C>T , CM000667.2:g.173232889C>T GRCh38
NC_000005.9:g.172659892C>T , CM000667.1:g.172659892C>T GRCh37
NC_000005.8:g.172592498C>T NCBI36
NG_013340.1:g.7424G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.655G>A MANE Select ENSP00000327758.4:p.Ala219Thr
ENST00000329198.4:c.655G>A ENSP00000327758.4:p.Ala219Thr
NM_001166175.1:c.*608G>A NP_001159647.1:n.*608G>A
NM_001166176.1:c.*454G>A NP_001159648.1:n.*454G>A
NM_004387.3:c.655G>A NP_004378.1:p.Ala219Thr
NM_004387.4:c.655G>A MANE Select NP_004378.1:p.Ala219Thr
NM_001166175.2:c.*608G>A NP_001159647.1:n.*608G>A
NM_001166176.2:c.*454G>A NP_001159648.1:n.*454G>A
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