Canonical Allele Identifier: CA3563635
Gene: NKX2-5 HGNC NCBI
ClinVar RCV:
RCV002419126
RCV003099808
ClinVar Variation:
1761553
dbSNP:
780688010
gnomAD v2:
5:172659748 C / G
gnomAD v3:
5:173232745 C / G
gnomAD v4:
chr5-173232745-C-G
Joint Max Group AF 0.00001065 (AFR)
Exomes Max Group AF 0.00000994 (AFR)
MyVariant.info:
GRCh38 chr5:g.173232745C>G
GRCh37 chr5:g.172659748C>G
Revel Score:
ENST00000329198 (MANE Select) 0.164
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232745C>G , CM000667.2:g.173232745C>G GRCh38
NC_000005.9:g.172659748C>G , CM000667.1:g.172659748C>G GRCh37
NC_000005.8:g.172592354C>G NCBI36
NG_013340.1:g.7568G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.799G>C MANE Select ENSP00000327758.4:p.Gly267Arg
ENST00000329198.4:c.799G>C ENSP00000327758.4:p.Gly267Arg
NM_001166175.1:c.*752G>C NP_001159647.1:n.*752G>C
NM_001166176.1:c.*598G>C NP_001159648.1:n.*598G>C
NM_004387.3:c.799G>C NP_004378.1:p.Gly267Arg
NM_004387.4:c.799G>C MANE Select NP_004378.1:p.Gly267Arg
NM_001166175.2:c.*752G>C NP_001159647.1:n.*752G>C
NM_001166176.2:c.*598G>C NP_001159648.1:n.*598G>C
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