Canonical Allele Identifier: CA362161569

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 1901299
• ClinVar RCV Id: RCV002576650
• dbSNP Id: rs1197189103
• gnomAD v2: 5-172659969-C-T
• gnomAD v4: 5-173232966-C-T
• MyVariant Identifiers: chr5:g.172659969C>T (hg19) ; chr5:g.173232966C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232966C>T , CM000667.2:g.173232966C>T	GRCh38
NC_000005.9:g.172659969C>T , CM000667.1:g.172659969C>T	GRCh37
NC_000005.8:g.172592575C>T	NCBI36
NG_013340.1:g.7347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.578G>A MANE Select	ENSP00000327758.4:p.Cys193Tyr
ENST00000329198.4:c.578G>A	ENSP00000327758.4:p.Cys193Tyr
ENST00000424406.2:c.*531G>A	ENSP00000395378.2:n.*531G>A
ENST00000521848.1:c.*377G>A	ENSP00000427906.1:n.*377G>A
NM_001166175.1:c.*531G>A	NP_001159647.1:n.*531G>A
NM_001166176.1:c.*377G>A	NP_001159648.1:n.*377G>A
NM_004387.3:c.578G>A	NP_004378.1:p.Cys193Tyr
NM_004387.4:c.578G>A MANE Select	NP_004378.1:p.Cys193Tyr
NM_001166175.2:c.*531G>A	NP_001159647.1:n.*531G>A
NM_001166176.2:c.*377G>A	NP_001159648.1:n.*377G>A