Canonical Allele Identifier: CA447974584

Gene: NKX2-5

Linked Data

• dbSNP Id: rs1761349415
• gnomAD v3: 5-173232824-G-A
• gnomAD v4: 5-173232824-G-A
• MyVariant Identifiers: chr5:g.172659827G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232824G>A , CM000667.2:g.173232824G>A	GRCh38
NC_000005.9:g.172659827G>A , CM000667.1:g.172659827G>A	GRCh37
NC_000005.8:g.172592433G>A	NCBI36
NG_013340.1:g.7489C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.720C>T MANE Select	ENSP00000327758.4:p.Ala240=
ENST00000329198.4:c.720C>T	ENSP00000327758.4:p.Ala240=
NM_001166175.1:c.*673C>T	NP_001159647.1:n.*673C>T
NM_001166176.1:c.*519C>T	NP_001159648.1:n.*519C>T
NM_004387.3:c.720C>T	NP_004378.1:p.Ala240=
NM_004387.4:c.720C>T MANE Select	NP_004378.1:p.Ala240=
NM_001166175.2:c.*673C>T	NP_001159647.1:n.*673C>T
NM_001166176.2:c.*519C>T	NP_001159648.1:n.*519C>T