Canonical Allele Identifier: CA362160730
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1484652
ClinVar RCV Id: RCV002005961 RCV003170377
dbSNP Id: rs2113900561
gnomAD v4: 5-173232594-G-A
COSMIC: COSM4707086
MyVariant Identifiers: chr5:g.172659597G>A (hg19) chr5:g.173232594G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232594G>A , CM000667.2:g.173232594G>A GRCh38
NC_000005.9:g.172659597G>A , CM000667.1:g.172659597G>A GRCh37
NC_000005.8:g.172592203G>A NCBI36
NG_013340.1:g.7719C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.950C>T MANE Select ENSP00000327758.4:p.Thr317Met
ENST00000329198.4:c.950C>T ENSP00000327758.4:p.Thr317Met
NM_001166175.1:c.*903C>T NP_001159647.1:n.*903C>T
NM_001166176.1:c.*749C>T NP_001159648.1:n.*749C>T
NM_004387.3:c.950C>T NP_004378.1:p.Thr317Met
NM_004387.4:c.950C>T MANE Select NP_004378.1:p.Thr317Met
NM_001166175.2:c.*903C>T NP_001159647.1:n.*903C>T
NM_001166176.2:c.*749C>T NP_001159648.1:n.*749C>T
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