Canonical Allele Identifier: CA362161266

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 2504824
• ClinVar RCV Id: RCV003234415
• gnomAD v4: 5-173232808-T-C
• MyVariant Identifiers: chr5:g.172659811T>C (hg19) ; chr5:g.173232808T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232808T>C , CM000667.2:g.173232808T>C	GRCh38
NC_000005.9:g.172659811T>C , CM000667.1:g.172659811T>C	GRCh37
NC_000005.8:g.172592417T>C	NCBI36
NG_013340.1:g.7505A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.736A>G MANE Select	ENSP00000327758.4:p.Asn246Asp
ENST00000329198.4:c.736A>G	ENSP00000327758.4:p.Asn246Asp
NM_001166175.1:c.*689A>G	NP_001159647.1:n.*689A>G
NM_001166176.1:c.*535A>G	NP_001159648.1:n.*535A>G
NM_004387.3:c.736A>G	NP_004378.1:p.Asn246Asp
NM_004387.4:c.736A>G MANE Select	NP_004378.1:p.Asn246Asp
NM_001166175.2:c.*689A>G	NP_001159647.1:n.*689A>G
NM_001166176.2:c.*535A>G	NP_001159648.1:n.*535A>G