Canonical Allele Identifier: CA3563616

Gene: NKX2-5

Linked Data

• dbSNP Id: rs757275107
• ExAC: 5:172659673 A / C
• gnomAD v2: 5-172659673-A-C
• MyVariant Identifiers: chr5:g.172659673A>C (hg19) ; chr5:g.172659673_172659676delinsCGTT (hg19) ; chr5:g.173232670A>C (hg38) ; chr5:g.173232670_173232673delinsCGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232670A>C , CM000667.2:g.173232670A>C	GRCh38
NC_000005.9:g.172659673A>C , CM000667.1:g.172659673A>C	GRCh37
NC_000005.8:g.172592279A>C	NCBI36
NG_013340.1:g.7643T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.874T>G MANE Select	ENSP00000327758.4:p.Phe292Val
ENST00000329198.4:c.874T>G	ENSP00000327758.4:p.Phe292Val
NM_001166175.1:c.*827T>G	NP_001159647.1:n.*827T>G
NM_001166176.1:c.*673T>G	NP_001159648.1:n.*673T>G
NM_004387.3:c.874T>G	NP_004378.1:p.Phe292Val
NM_004387.4:c.874T>G MANE Select	NP_004378.1:p.Phe292Val
NM_001166175.2:c.*827T>G	NP_001159647.1:n.*827T>G
NM_001166176.2:c.*673T>G	NP_001159648.1:n.*673T>G