Canonical Allele Identifier: CA214394

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 9009
• ClinVar RCV Id: RCV000009574 ; RCV000030618 ; RCV000171013 ; RCV000618034 ; RCV000987633 ; RCV000514277
• dbSNP Id: rs104893904
• ExAC: 5:172662026 C / G
• gnomAD v2: 5-172662026-C-G
• gnomAD v3: 5-173235023-C-G
• gnomAD v4: 5-173235023-C-G
• MyVariant Identifiers: chr5:g.172662026C>G (hg19) ; chr5:g.173235023C>G (hg38)
• PubMed: PMID:11714651 ; PMID:25333069

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173235023C>G , CM000667.2:g.173235023C>G	GRCh38
NC_000005.9:g.172662026C>G , CM000667.1:g.172662026C>G	GRCh37
NC_000005.8:g.172594632C>G	NCBI36
NG_013340.1:g.5290G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.61G>C MANE Select	ENSP00000327758.4:p.Glu21Gln
ENST00000329198.4:c.61G>C	ENSP00000327758.4:p.Glu21Gln
ENST00000424406.2:c.61G>C	ENSP00000395378.2:p.Glu21Gln
ENST00000517440.1:c.61G>C	ENSP00000429905.1:p.Glu21Gln
ENST00000521848.1:c.61G>C	ENSP00000427906.1:p.Glu21Gln
NM_001166175.1:c.61G>C	NP_001159647.1:p.Glu21Gln
NM_001166176.1:c.61G>C	NP_001159648.1:p.Glu21Gln
NM_004387.3:c.61G>C	NP_004378.1:p.Glu21Gln
XM_017009071.2:c.61G>C	XP_016864560.1:p.Glu21Gln
NM_004387.4:c.61G>C MANE Select	NP_004378.1:p.Glu21Gln
NM_001166175.2:c.61G>C	NP_001159647.1:p.Glu21Gln
NM_001166176.2:c.61G>C	NP_001159648.1:p.Glu21Gln