Canonical Allele Identifier: CA447975054

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 2452060
• ClinVar RCV Id: RCV003172154
• gnomAD v4: 5-173233013-G-A
• MyVariant Identifiers: chr5:g.172660016G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233013G>A , CM000667.2:g.173233013G>A	GRCh38
NC_000005.9:g.172660016G>A , CM000667.1:g.172660016G>A	GRCh37
NC_000005.8:g.172592622G>A	NCBI36
NG_013340.1:g.7300C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.531C>T MANE Select	ENSP00000327758.4:p.Leu177=
ENST00000329198.4:c.531C>T	ENSP00000327758.4:p.Leu177=
ENST00000424406.2:c.*484C>T	ENSP00000395378.2:n.*484C>T
ENST00000521848.1:c.*330C>T	ENSP00000427906.1:n.*330C>T
NM_001166175.1:c.*484C>T	NP_001159647.1:n.*484C>T
NM_001166176.1:c.*330C>T	NP_001159648.1:n.*330C>T
NM_004387.3:c.531C>T	NP_004378.1:p.Leu177=
NM_004387.4:c.531C>T MANE Select	NP_004378.1:p.Leu177=
NM_001166175.2:c.*484C>T	NP_001159647.1:n.*484C>T
NM_001166176.2:c.*330C>T	NP_001159648.1:n.*330C>T