Canonical Allele Identifier: CA3563602

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 519109
• ClinVar RCV Id: RCV000620989 ; RCV001422864
• dbSNP Id: rs529731562
• ExAC: 5:172659641 C / G
• gnomAD v2: 5-172659641-C-G
• gnomAD v3: 5-173232638-C-G
• gnomAD v4: 5-173232638-C-G
• MyVariant Identifiers: chr5:g.172659641C>G (hg19) ; chr5:g.173232638C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232638C>G , CM000667.2:g.173232638C>G	GRCh38
NC_000005.9:g.172659641C>G , CM000667.1:g.172659641C>G	GRCh37
NC_000005.8:g.172592247C>G	NCBI36
NG_013340.1:g.7675G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.906G>C MANE Select	ENSP00000327758.4:p.Ala302=
ENST00000329198.4:c.906G>C	ENSP00000327758.4:p.Ala302=
NM_001166175.1:c.*859G>C	NP_001159647.1:n.*859G>C
NM_001166176.1:c.*705G>C	NP_001159648.1:n.*705G>C
NM_004387.3:c.906G>C	NP_004378.1:p.Ala302=
NM_004387.4:c.906G>C MANE Select	NP_004378.1:p.Ala302=
NM_001166175.2:c.*859G>C	NP_001159647.1:n.*859G>C
NM_001166176.2:c.*705G>C	NP_001159648.1:n.*705G>C