Canonical Allele Identifier: CA447975022

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 509901
• ClinVar RCV Id: RCV000614035 ; RCV001464450 ; RCV002456344
• dbSNP Id: rs769566306
• MyVariant Identifiers: chr5:g.172660190C>A (hg19) ; chr5:g.173233187C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233187C>A , CM000667.2:g.173233187C>A	GRCh38
NC_000005.9:g.172660190C>A , CM000667.1:g.172660190C>A	GRCh37
NC_000005.8:g.172592796C>A	NCBI36
NG_013340.1:g.7126G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.357G>T MANE Select	ENSP00000327758.4:p.Ala119=
ENST00000329198.4:c.357G>T	ENSP00000327758.4:p.Ala119=
ENST00000424406.2:c.*310G>T	ENSP00000395378.2:n.*310G>T
ENST00000521848.1:c.*156G>T	ENSP00000427906.1:n.*156G>T
NM_001166175.1:c.*310G>T	NP_001159647.1:n.*310G>T
NM_001166176.1:c.*156G>T	NP_001159648.1:n.*156G>T
NM_004387.3:c.357G>T	NP_004378.1:p.Ala119=
NM_004387.4:c.357G>T MANE Select	NP_004378.1:p.Ala119=
NM_001166175.2:c.*310G>T	NP_001159647.1:n.*310G>T
NM_001166176.2:c.*156G>T	NP_001159648.1:n.*156G>T