Canonical Allele Identifier: CA362161979
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 536135
ClinVar RCV Id: RCV000644448 RCV000786393
dbSNP Id: rs1320947604
gnomAD v2: 5-172660170-T-G
gnomAD v4: 5-173233167-T-G
MyVariant Identifiers: chr5:g.172660170T>G (hg19) chr5:g.173233167T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233167T>G , CM000667.2:g.173233167T>G GRCh38
NC_000005.9:g.172660170T>G , CM000667.1:g.172660170T>G GRCh37
NC_000005.8:g.172592776T>G NCBI36
NG_013340.1:g.7146A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.377A>C MANE Select ENSP00000327758.4:p.Glu126Ala
ENST00000329198.4:c.377A>C ENSP00000327758.4:p.Glu126Ala
ENST00000424406.2:c.*330A>C ENSP00000395378.2:n.*330A>C
ENST00000521848.1:c.*176A>C ENSP00000427906.1:n.*176A>C
NM_001166175.1:c.*330A>C NP_001159647.1:n.*330A>C
NM_001166176.1:c.*176A>C NP_001159648.1:n.*176A>C
NM_004387.3:c.377A>C NP_004378.1:p.Glu126Ala
NM_004387.4:c.377A>C MANE Select NP_004378.1:p.Glu126Ala
NM_001166175.2:c.*330A>C NP_001159647.1:n.*330A>C
NM_001166176.2:c.*176A>C NP_001159648.1:n.*176A>C
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