Canonical Allele Identifier: CA3563648
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 691711
ClinVar RCV Id: RCV001327140 RCV001593059 RCV000852563 RCV002390732
dbSNP Id: rs762090105
ExAC: 5:172659792 G / A
gnomAD v2: 5-172659792-G-A
gnomAD v3: 5-173232789-G-A
gnomAD v4: 5-173232789-G-A
MyVariant Identifiers: chr5:g.172659792G>A (hg19) chr5:g.173232789G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232789G>A , CM000667.2:g.173232789G>A GRCh38
NC_000005.9:g.172659792G>A , CM000667.1:g.172659792G>A GRCh37
NC_000005.8:g.172592398G>A NCBI36
NG_013340.1:g.7524C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.755C>T MANE Select ENSP00000327758.4:p.Ala252Val
ENST00000329198.4:c.755C>T ENSP00000327758.4:p.Ala252Val
NM_001166175.1:c.*708C>T NP_001159647.1:n.*708C>T
NM_001166176.1:c.*554C>T NP_001159648.1:n.*554C>T
NM_004387.3:c.755C>T NP_004378.1:p.Ala252Val
NM_004387.4:c.755C>T MANE Select NP_004378.1:p.Ala252Val
NM_001166175.2:c.*708C>T NP_001159647.1:n.*708C>T
NM_001166176.2:c.*554C>T NP_001159648.1:n.*554C>T
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