Canonical Allele Identifier: CA362161712

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 2084665
• ClinVar RCV Id: RCV002994825
• MyVariant Identifiers: chr5:g.172660035A>T (hg19) ; chr5:g.173233032A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233032A>T , CM000667.2:g.173233032A>T	GRCh38
NC_000005.9:g.172660035A>T , CM000667.1:g.172660035A>T	GRCh37
NC_000005.8:g.172592641A>T	NCBI36
NG_013340.1:g.7281T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.512T>A MANE Select	ENSP00000327758.4:p.Leu171Gln
ENST00000329198.4:c.512T>A	ENSP00000327758.4:p.Leu171Gln
ENST00000424406.2:c.*465T>A	ENSP00000395378.2:n.*465T>A
ENST00000521848.1:c.*311T>A	ENSP00000427906.1:n.*311T>A
NM_001166175.1:c.*465T>A	NP_001159647.1:n.*465T>A
NM_001166176.1:c.*311T>A	NP_001159648.1:n.*311T>A
NM_004387.3:c.512T>A	NP_004378.1:p.Leu171Gln
NM_004387.4:c.512T>A MANE Select	NP_004378.1:p.Leu171Gln
NM_001166175.2:c.*465T>A	NP_001159647.1:n.*465T>A
NM_001166176.2:c.*311T>A	NP_001159648.1:n.*311T>A