Canonical Allele Identifier: CA3563706
Gene: NKX2-5 HGNC NCBI
ClinVar RCV:
RCV000617877
RCV000808237
ClinVar Variation:
519016
dbSNP:
754394393
gnomAD v2:
5:172660152 C / G
gnomAD v3:
5:173233149 C / G
gnomAD v4:
chr5-173233149-C-G
Joint Max Group AF 0.00001032 (NFE)
Exomes Max Group AF 0.00001014 (NFE)
MyVariant.info:
GRCh38 chr5:g.173233149C>G
GRCh37 chr5:g.172660152C>G
Revel Score:
ENST00000329198 (MANE Select) 0.566
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233149C>G , CM000667.2:g.173233149C>G GRCh38
NC_000005.9:g.172660152C>G , CM000667.1:g.172660152C>G GRCh37
NC_000005.8:g.172592758C>G NCBI36
NG_013340.1:g.7164G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.395G>C MANE Select ENSP00000327758.4:p.Arg132Pro
ENST00000329198.4:c.395G>C ENSP00000327758.4:p.Arg132Pro
ENST00000424406.2:c.*348G>C ENSP00000395378.2:n.*348G>C
ENST00000521848.1:c.*194G>C ENSP00000427906.1:n.*194G>C
NM_001166175.1:c.*348G>C NP_001159647.1:n.*348G>C
NM_001166176.1:c.*194G>C NP_001159648.1:n.*194G>C
NM_004387.3:c.395G>C NP_004378.1:p.Arg132Pro
NM_004387.4:c.395G>C MANE Select NP_004378.1:p.Arg132Pro
NM_001166175.2:c.*348G>C NP_001159647.1:n.*348G>C
NM_001166176.2:c.*194G>C NP_001159648.1:n.*194G>C
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