Canonical Allele Identifier: CA362161731

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 3224201
• ClinVar RCV Id: RCV004518927
• gnomAD v4: 5-173233042-G-A
• MyVariant Identifiers: chr5:g.172660045G>A (hg19) ; chr5:g.173233042G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233042G>A , CM000667.2:g.173233042G>A	GRCh38
NC_000005.9:g.172660045G>A , CM000667.1:g.172660045G>A	GRCh37
NC_000005.8:g.172592651G>A	NCBI36
NG_013340.1:g.7271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.502C>T MANE Select	ENSP00000327758.4:p.Arg168Cys
ENST00000329198.4:c.502C>T	ENSP00000327758.4:p.Arg168Cys
ENST00000424406.2:c.*455C>T	ENSP00000395378.2:n.*455C>T
ENST00000521848.1:c.*301C>T	ENSP00000427906.1:n.*301C>T
NM_001166175.1:c.*455C>T	NP_001159647.1:n.*455C>T
NM_001166176.1:c.*301C>T	NP_001159648.1:n.*301C>T
NM_004387.3:c.502C>T	NP_004378.1:p.Arg168Cys
NM_004387.4:c.502C>T MANE Select	NP_004378.1:p.Arg168Cys
NM_001166175.2:c.*455C>T	NP_001159647.1:n.*455C>T
NM_001166176.2:c.*301C>T	NP_001159648.1:n.*301C>T