Canonical Allele Identifier: CA362161001
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1433316
ClinVar RCV Id: RCV001960073 RCV002370558
dbSNP Id: rs1318592912
gnomAD v2: 5-172659675-T-G
gnomAD v4: 5-173232672-T-G
MyVariant Identifiers: chr5:g.172659675T>G (hg19) chr5:g.173232672T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232672T>G , CM000667.2:g.173232672T>G GRCh38
NC_000005.9:g.172659675T>G , CM000667.1:g.172659675T>G GRCh37
NC_000005.8:g.172592281T>G NCBI36
NG_013340.1:g.7641A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.872A>C MANE Select ENSP00000327758.4:p.Asn291Thr
ENST00000329198.4:c.872A>C ENSP00000327758.4:p.Asn291Thr
NM_001166175.1:c.*825A>C NP_001159647.1:n.*825A>C
NM_001166176.1:c.*671A>C NP_001159648.1:n.*671A>C
NM_004387.3:c.872A>C NP_004378.1:p.Asn291Thr
NM_004387.4:c.872A>C MANE Select NP_004378.1:p.Asn291Thr
NM_001166175.2:c.*825A>C NP_001159647.1:n.*825A>C
NM_001166176.2:c.*671A>C NP_001159648.1:n.*671A>C
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