Canonical Allele Identifier: CA3563611

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 519139
• ClinVar RCV Id: RCV000617167 ; RCV003619712
• dbSNP Id: rs373421818
• ExAC: 5:172659660 C / T
• gnomAD v2: 5-172659660-C-T
• gnomAD v3: 5-173232657-C-T
• gnomAD v4: 5-173232657-C-T
• MyVariant Identifiers: chr5:g.172659660C>T (hg19) ; chr5:g.173232657C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232657C>T , CM000667.2:g.173232657C>T	GRCh38
NC_000005.9:g.172659660C>T , CM000667.1:g.172659660C>T	GRCh37
NC_000005.8:g.172592266C>T	NCBI36
NG_013340.1:g.7656G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.887G>A MANE Select	ENSP00000327758.4:p.Gly296Asp
ENST00000329198.4:c.887G>A	ENSP00000327758.4:p.Gly296Asp
NM_001166175.1:c.*840G>A	NP_001159647.1:n.*840G>A
NM_001166176.1:c.*686G>A	NP_001159648.1:n.*686G>A
NM_004387.3:c.887G>A	NP_004378.1:p.Gly296Asp
NM_004387.4:c.887G>A MANE Select	NP_004378.1:p.Gly296Asp
NM_001166175.2:c.*840G>A	NP_001159647.1:n.*840G>A
NM_001166176.2:c.*686G>A	NP_001159648.1:n.*686G>A