Canonical Allele Identifier: CA362163642

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 1717845
• ClinVar RCV Id: RCV002297844
• dbSNP Id: rs113818864
• gnomAD v2: 5-172661963-C-T
• gnomAD v3: 5-173234960-C-T
• gnomAD v4: 5-173234960-C-T
• MyVariant Identifiers: chr5:g.172661963C>T (hg19) ; chr5:g.173234960C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234960C>T , CM000667.2:g.173234960C>T	GRCh38
NC_000005.9:g.172661963C>T , CM000667.1:g.172661963C>T	GRCh37
NC_000005.8:g.172594569C>T	NCBI36
NG_013340.1:g.5353G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.124G>A MANE Select	ENSP00000327758.4:p.Ala42Thr
ENST00000329198.4:c.124G>A	ENSP00000327758.4:p.Ala42Thr
ENST00000424406.2:c.124G>A	ENSP00000395378.2:p.Ala42Thr
ENST00000517440.1:c.124G>A	ENSP00000429905.1:p.Ala42Thr
ENST00000521848.1:c.124G>A	ENSP00000427906.1:p.Ala42Thr
NM_001166175.1:c.124G>A	NP_001159647.1:p.Ala42Thr
NM_001166176.1:c.124G>A	NP_001159648.1:p.Ala42Thr
NM_004387.3:c.124G>A	NP_004378.1:p.Ala42Thr
XM_017009071.2:c.124G>A	XP_016864560.1:p.Ala42Thr
NM_004387.4:c.124G>A MANE Select	NP_004378.1:p.Ala42Thr
NM_001166175.2:c.124G>A	NP_001159647.1:p.Ala42Thr
NM_001166176.2:c.124G>A	NP_001159648.1:p.Ala42Thr