Canonical Allele Identifier: CA132259045
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1693108
ClinVar RCV Id: RCV002259535
dbSNP Id: rs922066386
gnomAD v4: 5-173232861-T-G
MyVariant Identifiers: chr5:g.172659864T>G (hg19) chr5:g.173232861T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232861T>G , CM000667.2:g.173232861T>G GRCh38
NC_000005.9:g.172659864T>G , CM000667.1:g.172659864T>G GRCh37
NC_000005.8:g.172592470T>G NCBI36
NG_013340.1:g.7452A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.683A>C MANE Select ENSP00000327758.4:p.Lys228Thr
ENST00000329198.4:c.683A>C ENSP00000327758.4:p.Lys228Thr
NM_001166175.1:c.*636A>C NP_001159647.1:n.*636A>C
NM_001166176.1:c.*482A>C NP_001159648.1:n.*482A>C
NM_004387.3:c.683A>C NP_004378.1:p.Lys228Thr
NM_004387.4:c.683A>C MANE Select NP_004378.1:p.Lys228Thr
NM_001166175.2:c.*636A>C NP_001159647.1:n.*636A>C
NM_001166176.2:c.*482A>C NP_001159648.1:n.*482A>C
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