Canonical Allele Identifier: CA3563590

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 468249
• ClinVar RCV Id: RCV000540219 ; RCV000998493 ; RCV001727746
• dbSNP Id: rs201249977
• ExAC: 5:172659604 C / A
• gnomAD v2: 5-172659604-C-A
• gnomAD v3: 5-173232601-C-A
• gnomAD v4: 5-173232601-C-A
• MyVariant Identifiers: chr5:g.172659604C>A (hg19) ; chr5:g.173232601C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232601C>A , CM000667.2:g.173232601C>A	GRCh38
NC_000005.9:g.172659604C>A , CM000667.1:g.172659604C>A	GRCh37
NC_000005.8:g.172592210C>A	NCBI36
NG_013340.1:g.7712G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000329198.5:c.943G>T MANE Select	ENSP00000327758.4:p.Val315Leu
ENST00000329198.4:c.943G>T	ENSP00000327758.4:p.Val315Leu
NM_001166175.1:c.*896G>T	NP_001159647.1:n.*896G>T
NM_001166176.1:c.*742G>T	NP_001159648.1:n.*742G>T
NM_004387.3:c.943G>T	NP_004378.1:p.Val315Leu
NM_004387.4:c.943G>T MANE Select	NP_004378.1:p.Val315Leu
NM_001166175.2:c.*896G>T	NP_001159647.1:n.*896G>T
NM_001166176.2:c.*742G>T	NP_001159648.1:n.*742G>T