Canonical Allele Identifier: CA362160955

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 1378648
• ClinVar RCV Id: RCV001881261
• dbSNP Id: rs1358735679
• MyVariant Identifiers: chr5:g.172659661C>A (hg19) ; chr5:g.173232658C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232658C>A , CM000667.2:g.173232658C>A	GRCh38
NC_000005.9:g.172659661C>A , CM000667.1:g.172659661C>A	GRCh37
NC_000005.8:g.172592267C>A	NCBI36
NG_013340.1:g.7655G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.886G>T MANE Select	ENSP00000327758.4:p.Gly296Cys
ENST00000329198.4:c.886G>T	ENSP00000327758.4:p.Gly296Cys
NM_001166175.1:c.*839G>T	NP_001159647.1:n.*839G>T
NM_001166176.1:c.*685G>T	NP_001159648.1:n.*685G>T
NM_004387.3:c.886G>T	NP_004378.1:p.Gly296Cys
NM_004387.4:c.886G>T MANE Select	NP_004378.1:p.Gly296Cys
NM_001166175.2:c.*839G>T	NP_001159647.1:n.*839G>T
NM_001166176.2:c.*685G>T	NP_001159648.1:n.*685G>T