Canonical Allele Identifier: CA279927
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 219169
ClinVar RCV Id: RCV000203525
dbSNP Id: rs864321649
gnomAD v4: 5-173233101-G-T
MyVariant Identifiers: chr5:g.172660104G>T (hg19) chr5:g.173233101G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233101G>T , CM000667.2:g.173233101G>T GRCh38
NC_000005.9:g.172660104G>T , CM000667.1:g.172660104G>T GRCh37
NC_000005.8:g.172592710G>T NCBI36
NG_013340.1:g.7212C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.443C>A MANE Select ENSP00000327758.4:p.Ala148Glu
ENST00000329198.4:c.443C>A ENSP00000327758.4:p.Ala148Glu
ENST00000424406.2:c.*396C>A ENSP00000395378.2:n.*396C>A
ENST00000521848.1:c.*242C>A ENSP00000427906.1:n.*242C>A
NM_001166175.1:c.*396C>A NP_001159647.1:n.*396C>A
NM_001166176.1:c.*242C>A NP_001159648.1:n.*242C>A
NM_004387.3:c.443C>A NP_004378.1:p.Ala148Glu
NM_004387.4:c.443C>A MANE Select NP_004378.1:p.Ala148Glu
NM_001166175.2:c.*396C>A NP_001159647.1:n.*396C>A
NM_001166176.2:c.*242C>A NP_001159648.1:n.*242C>A
Search 100 bp 5'
Search 100 bp 3'