Canonical Allele Identifier: CA3563661

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 1203227
• ClinVar RCV Id: RCV001569194 ; RCV002368590
• dbSNP Id: rs759339072
• ExAC: 5:172659852 C / G
• gnomAD v2: 5-172659852-C-G
• gnomAD v4: 5-173232849-C-G
• MyVariant Identifiers: chr5:g.172659852C>G (hg19) ; chr5:g.173232849C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232849C>G , CM000667.2:g.173232849C>G	GRCh38
NC_000005.9:g.172659852C>G , CM000667.1:g.172659852C>G	GRCh37
NC_000005.8:g.172592458C>G	NCBI36
NG_013340.1:g.7464G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.695G>C MANE Select	ENSP00000327758.4:p.Gly232Ala
ENST00000329198.4:c.695G>C	ENSP00000327758.4:p.Gly232Ala
NM_001166175.1:c.*648G>C	NP_001159647.1:n.*648G>C
NM_001166176.1:c.*494G>C	NP_001159648.1:n.*494G>C
NM_004387.3:c.695G>C	NP_004378.1:p.Gly232Ala
NM_004387.4:c.695G>C MANE Select	NP_004378.1:p.Gly232Ala
NM_001166175.2:c.*648G>C	NP_001159647.1:n.*648G>C
NM_001166176.2:c.*494G>C	NP_001159648.1:n.*494G>C