Canonical Allele Identifier: CA3563715

Gene: NKX2-5

Linked Data

• dbSNP Id: rs748099661
• ExAC: 5:172660181 C / T
• gnomAD v2: 5-172660181-C-T
• gnomAD v4: 5-173233178-C-T
• MyVariant Identifiers: chr5:g.172660181C>T (hg19) ; chr5:g.173233178C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233178C>T , CM000667.2:g.173233178C>T	GRCh38
NC_000005.9:g.172660181C>T , CM000667.1:g.172660181C>T	GRCh37
NC_000005.8:g.172592787C>T	NCBI36
NG_013340.1:g.7135G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.366G>A MANE Select	ENSP00000327758.4:p.Leu122=
ENST00000329198.4:c.366G>A	ENSP00000327758.4:p.Leu122=
ENST00000424406.2:c.*319G>A	ENSP00000395378.2:n.*319G>A
ENST00000521848.1:c.*165G>A	ENSP00000427906.1:n.*165G>A
NM_001166175.1:c.*319G>A	NP_001159647.1:n.*319G>A
NM_001166176.1:c.*165G>A	NP_001159648.1:n.*165G>A
NM_004387.3:c.366G>A	NP_004378.1:p.Leu122=
NM_004387.4:c.366G>A MANE Select	NP_004378.1:p.Leu122=
NM_001166175.2:c.*319G>A	NP_001159647.1:n.*319G>A
NM_001166176.2:c.*165G>A	NP_001159648.1:n.*165G>A