Canonical Allele Identifier: CA120059
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 9019
ClinVar RCV Id: RCV000009585 RCV003441712
dbSNP Id: rs137852685
ExAC: 5:172660065 C / G
gnomAD v2: 5-172660065-C-G
gnomAD v3: 5-173233062-C-G
gnomAD v4: 5-173233062-C-G
MyVariant Identifiers: chr5:g.172660065C>G (hg19) chr5:g.173233062C>G (hg38)
PubMed: PMID:16418214
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233062C>G , CM000667.2:g.173233062C>G GRCh38
NC_000005.9:g.172660065C>G , CM000667.1:g.172660065C>G GRCh37
NC_000005.8:g.172592671C>G NCBI36
NG_013340.1:g.7251G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.482G>C MANE Select ENSP00000327758.4:p.Arg161Pro
ENST00000329198.4:c.482G>C ENSP00000327758.4:p.Arg161Pro
ENST00000424406.2:c.*435G>C ENSP00000395378.2:n.*435G>C
ENST00000521848.1:c.*281G>C ENSP00000427906.1:n.*281G>C
NM_001166175.1:c.*435G>C NP_001159647.1:n.*435G>C
NM_001166176.1:c.*281G>C NP_001159648.1:n.*281G>C
NM_004387.3:c.482G>C NP_004378.1:p.Arg161Pro
NM_004387.4:c.482G>C MANE Select NP_004378.1:p.Arg161Pro
NM_001166175.2:c.*435G>C NP_001159647.1:n.*435G>C
NM_001166176.2:c.*281G>C NP_001159648.1:n.*281G>C
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