Canonical Allele Identifier: CA3563615
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs749577978
ExAC: 5:172659670 C / A
gnomAD v2: 5-172659670-C-A
gnomAD v4: 5-173232667-C-A
MyVariant Identifiers: chr5:g.172659670C>A (hg19) chr5:g.173232667C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232667C>A , CM000667.2:g.173232667C>A GRCh38
NC_000005.9:g.172659670C>A , CM000667.1:g.172659670C>A GRCh37
NC_000005.8:g.172592276C>A NCBI36
NG_013340.1:g.7646G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.877G>T MANE Select ENSP00000327758.4:p.Val293Leu
ENST00000329198.4:c.877G>T ENSP00000327758.4:p.Val293Leu
NM_001166175.1:c.*830G>T NP_001159647.1:n.*830G>T
NM_001166176.1:c.*676G>T NP_001159648.1:n.*676G>T
NM_004387.3:c.877G>T NP_004378.1:p.Val293Leu
NM_004387.4:c.877G>T MANE Select NP_004378.1:p.Val293Leu
NM_001166175.2:c.*830G>T NP_001159647.1:n.*830G>T
NM_001166176.2:c.*676G>T NP_001159648.1:n.*676G>T
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