Canonical Allele Identifier: CA212658
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 9016
ClinVar RCV Id: RCV000009582
dbSNP Id: rs104893906

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232976G>A , CM000667.2:g.173232976G>A GRCh38
NC_000005.9:g.172659979G>A , CM000667.1:g.172659979G>A GRCh37
NC_000005.8:g.172592585G>A NCBI36
NG_013340.1:g.7337C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.568C>T MANE Select ENSP00000327758.4:p.Arg190Cys
ENST00000329198.4:c.568C>T ENSP00000327758.4:p.Arg190Cys
ENST00000424406.2:c.*521C>T ENSP00000395378.2:n.*521C>T
ENST00000521848.1:c.*367C>T ENSP00000427906.1:n.*367C>T
NM_001166175.1:c.*521C>T NP_001159647.1:n.*521C>T
NM_001166176.1:c.*367C>T NP_001159648.1:n.*367C>T
NM_004387.3:c.568C>T NP_004378.1:p.Arg190Cys
NM_004387.4:c.568C>T MANE Select NP_004378.1:p.Arg190Cys
NM_001166175.2:c.*521C>T NP_001159647.1:n.*521C>T
NM_001166176.2:c.*367C>T NP_001159648.1:n.*367C>T