Canonical Allele Identifier: CA3563620

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 378275
• ClinVar RCV Id: RCV000464580 ; RCV000621009 ; RCV001703473 ; RCV002488885
• dbSNP Id: rs374150672
• ExAC: 5:172659695 G / C
• gnomAD v2: 5-172659695-G-C
• gnomAD v3: 5-173232692-G-C
• gnomAD v4: 5-173232692-G-C
• MyVariant Identifiers: chr5:g.172659695G>C (hg19) ; chr5:g.173232692G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232692G>C , CM000667.2:g.173232692G>C	GRCh38
NC_000005.9:g.172659695G>C , CM000667.1:g.172659695G>C	GRCh37
NC_000005.8:g.172592301G>C	NCBI36
NG_013340.1:g.7621C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.852C>G MANE Select	ENSP00000327758.4:p.Ala284=
ENST00000329198.4:c.852C>G	ENSP00000327758.4:p.Ala284=
NM_001166175.1:c.*805C>G	NP_001159647.1:n.*805C>G
NM_001166176.1:c.*651C>G	NP_001159648.1:n.*651C>G
NM_004387.3:c.852C>G	NP_004378.1:p.Ala284=
NM_004387.4:c.852C>G MANE Select	NP_004378.1:p.Ala284=
NM_001166175.2:c.*805C>G	NP_001159647.1:n.*805C>G
NM_001166176.2:c.*651C>G	NP_001159648.1:n.*651C>G