Canonical Allele Identifier: CA3563628

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 392351
• ClinVar RCV Id: RCV000434919 ; RCV000644446 ; RCV002429460 ; RCV003224281
• dbSNP Id: rs751564052
• ExAC: 5:172659720 G / C
• gnomAD v2: 5-172659720-G-C
• gnomAD v3: 5-173232717-G-C
• gnomAD v4: 5-173232717-G-C
• MyVariant Identifiers: chr5:g.172659720G>C (hg19) ; chr5:g.173232717G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232717G>C , CM000667.2:g.173232717G>C	GRCh38
NC_000005.9:g.172659720G>C , CM000667.1:g.172659720G>C	GRCh37
NC_000005.8:g.172592326G>C	NCBI36
NG_013340.1:g.7596C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000329198.5:c.827C>G MANE Select	ENSP00000327758.4:p.Ala276Gly
ENST00000329198.4:c.827C>G	ENSP00000327758.4:p.Ala276Gly
NM_001166175.1:c.*780C>G	NP_001159647.1:n.*780C>G
NM_001166176.1:c.*626C>G	NP_001159648.1:n.*626C>G
NM_004387.3:c.827C>G	NP_004378.1:p.Ala276Gly
NM_004387.4:c.827C>G MANE Select	NP_004378.1:p.Ala276Gly
NM_001166175.2:c.*780C>G	NP_001159647.1:n.*780C>G
NM_001166176.2:c.*626C>G	NP_001159648.1:n.*626C>G