Canonical Allele Identifier: CA132258701
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2397673
ClinVar RCV Id: RCV004233383
dbSNP Id: rs944504713
gnomAD v2: 5-172659586-T-C
gnomAD v3: 5-173232583-T-C
gnomAD v4: 5-173232583-T-C
MyVariant Identifiers: chr5:g.172659586T>C (hg19) chr5:g.173232583T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232583T>C , CM000667.2:g.173232583T>C GRCh38
NC_000005.9:g.172659586T>C , CM000667.1:g.172659586T>C GRCh37
NC_000005.8:g.172592192T>C NCBI36
NG_013340.1:g.7730A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.961A>G MANE Select ENSP00000327758.4:p.Ile321Val
ENST00000329198.4:c.961A>G ENSP00000327758.4:p.Ile321Val
NM_001166175.1:c.*914A>G NP_001159647.1:n.*914A>G
NM_001166176.1:c.*760A>G NP_001159648.1:n.*760A>G
NM_004387.3:c.961A>G NP_004378.1:p.Ile321Val
NM_004387.4:c.961A>G MANE Select NP_004378.1:p.Ile321Val
NM_001166175.2:c.*914A>G NP_001159647.1:n.*914A>G
NM_001166176.2:c.*760A>G NP_001159648.1:n.*760A>G
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