Canonical Allele Identifier: CA132259062
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 940953
ClinVar RCV Id: RCV001210640 RCV002365948
dbSNP Id: rs866974584
gnomAD v2: 5-172659874-G-A
gnomAD v3: 5-173232871-G-A
gnomAD v4: 5-173232871-G-A
MyVariant Identifiers: chr5:g.172659874G>A (hg19) chr5:g.173232871G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232871G>A , CM000667.2:g.173232871G>A GRCh38
NC_000005.9:g.172659874G>A , CM000667.1:g.172659874G>A GRCh37
NC_000005.8:g.172592480G>A NCBI36
NG_013340.1:g.7442C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.673C>T MANE Select ENSP00000327758.4:p.Arg225Cys
ENST00000329198.4:c.673C>T ENSP00000327758.4:p.Arg225Cys
NM_001166175.1:c.*626C>T NP_001159647.1:n.*626C>T
NM_001166176.1:c.*472C>T NP_001159648.1:n.*472C>T
NM_004387.3:c.673C>T NP_004378.1:p.Arg225Cys
NM_004387.4:c.673C>T MANE Select NP_004378.1:p.Arg225Cys
NM_001166175.2:c.*626C>T NP_001159647.1:n.*626C>T
NM_001166176.2:c.*472C>T NP_001159648.1:n.*472C>T
Search 100 bp 5'
Search 100 bp 3'