Canonical Allele Identifier: CA132259062
Gene: NKX2-5 HGNC NCBI
ClinVar RCV:
RCV001210640
RCV002365948
ClinVar Variation:
940953
dbSNP:
866974584
gnomAD v2:
5:172659874 G / A
gnomAD v3:
5:173232871 G / A
gnomAD v4:
chr5-173232871-G-A
Joint Max Group AF 0.00003245 (AMR)
Genomes Max Group AF 0.00005282 (AMR)
Exomes Max Group AF 0.00000746 (AMR)
MyVariant.info:
GRCh38 chr5:g.173232871G>A
GRCh37 chr5:g.172659874G>A
Revel Score:
ENST00000329198 (MANE Select) 0.775
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232871G>A , CM000667.2:g.173232871G>A GRCh38
NC_000005.9:g.172659874G>A , CM000667.1:g.172659874G>A GRCh37
NC_000005.8:g.172592480G>A NCBI36
NG_013340.1:g.7442C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.673C>T MANE Select ENSP00000327758.4:p.Arg225Cys
ENST00000329198.4:c.673C>T ENSP00000327758.4:p.Arg225Cys
NM_001166175.1:c.*626C>T NP_001159647.1:n.*626C>T
NM_001166176.1:c.*472C>T NP_001159648.1:n.*472C>T
NM_004387.3:c.673C>T NP_004378.1:p.Arg225Cys
NM_004387.4:c.673C>T MANE Select NP_004378.1:p.Arg225Cys
NM_001166175.2:c.*626C>T NP_001159647.1:n.*626C>T
NM_001166176.2:c.*472C>T NP_001159648.1:n.*472C>T
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