Canonical Allele Identifier: CA447974601

Gene: NKX2-5

Linked Data

• COSMIC: COSM3674395
• MyVariant Identifiers: chr5:g.172659608C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232605C>A , CM000667.2:g.173232605C>A	GRCh38
NC_000005.9:g.172659608C>A , CM000667.1:g.172659608C>A	GRCh37
NC_000005.8:g.172592214C>A	NCBI36
NG_013340.1:g.7708G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.939G>T MANE Select	ENSP00000327758.4:p.Ser313=
ENST00000329198.4:c.939G>T	ENSP00000327758.4:p.Ser313=
NM_001166175.1:c.*892G>T	NP_001159647.1:n.*892G>T
NM_001166176.1:c.*738G>T	NP_001159648.1:n.*738G>T
NM_004387.3:c.939G>T	NP_004378.1:p.Ser313=
NM_004387.4:c.939G>T MANE Select	NP_004378.1:p.Ser313=
NM_001166175.2:c.*892G>T	NP_001159647.1:n.*892G>T
NM_001166176.2:c.*738G>T	NP_001159648.1:n.*738G>T