Canonical Allele Identifier: CA120058
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 9018
ClinVar RCV Id: RCV000009584 RCV000171007 RCV000230156 RCV000620259 RCV001529235 RCV003904824
dbSNP Id: rs137852684
ExAC: 5:172660192 C / A
gnomAD v2: 5-172660192-C-A
gnomAD v3: 5-173233189-C-A
gnomAD v4: 5-173233189-C-A
MyVariant Identifiers: chr5:g.172660192C>A (hg19) chr5:g.173233189C>A (hg38)
PubMed: PMID:16418214 PMID:23285148 PMID:23661673 PMID:28387797 PMID:28798025
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233189C>A , CM000667.2:g.173233189C>A GRCh38
NC_000005.9:g.172660192C>A , CM000667.1:g.172660192C>A GRCh37
NC_000005.8:g.172592798C>A NCBI36
NG_013340.1:g.7124G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.355G>T MANE Select ENSP00000327758.4:p.Ala119Ser
ENST00000329198.4:c.355G>T ENSP00000327758.4:p.Ala119Ser
ENST00000424406.2:c.*308G>T ENSP00000395378.2:n.*308G>T
ENST00000521848.1:c.*154G>T ENSP00000427906.1:n.*154G>T
NM_001166175.1:c.*308G>T NP_001159647.1:n.*308G>T
NM_001166176.1:c.*154G>T NP_001159648.1:n.*154G>T
NM_004387.3:c.355G>T NP_004378.1:p.Ala119Ser
NM_004387.4:c.355G>T MANE Select NP_004378.1:p.Ala119Ser
NM_001166175.2:c.*308G>T NP_001159647.1:n.*308G>T
NM_001166176.2:c.*154G>T NP_001159648.1:n.*154G>T
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