Canonical Allele Identifier: CA447974663

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 2720752
• ClinVar RCV Id: RCV003511052
• gnomAD v4: 5-173232626-G-A
• MyVariant Identifiers: chr5:g.172659629G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232626G>A , CM000667.2:g.173232626G>A	GRCh38
NC_000005.9:g.172659629G>A , CM000667.1:g.172659629G>A	GRCh37
NC_000005.8:g.172592235G>A	NCBI36
NG_013340.1:g.7687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.918C>T MANE Select	ENSP00000327758.4:p.Pro306=
ENST00000329198.4:c.918C>T	ENSP00000327758.4:p.Pro306=
NM_001166175.1:c.*871C>T	NP_001159647.1:n.*871C>T
NM_001166176.1:c.*717C>T	NP_001159648.1:n.*717C>T
NM_004387.3:c.918C>T	NP_004378.1:p.Pro306=
NM_004387.4:c.918C>T MANE Select	NP_004378.1:p.Pro306=
NM_001166175.2:c.*871C>T	NP_001159647.1:n.*871C>T
NM_001166176.2:c.*717C>T	NP_001159648.1:n.*717C>T