Canonical Allele Identifier: CA3563668
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2154924
ClinVar RCV Id: RCV003083751
dbSNP Id: rs766314872
ExAC: 5:172659896 C / T
gnomAD v2: 5-172659896-C-T
gnomAD v4: 5-173232893-C-T
MyVariant Identifiers: chr5:g.172659896C>T (hg19) chr5:g.173232893C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232893C>T , CM000667.2:g.173232893C>T GRCh38
NC_000005.9:g.172659896C>T , CM000667.1:g.172659896C>T GRCh37
NC_000005.8:g.172592502C>T NCBI36
NG_013340.1:g.7420G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.651G>A MANE Select ENSP00000327758.4:p.Arg217=
ENST00000329198.4:c.651G>A ENSP00000327758.4:p.Arg217=
ENST00000424406.2:c.*604G>A ENSP00000395378.2:n.*604G>A
NM_001166175.1:c.*604G>A NP_001159647.1:n.*604G>A
NM_001166176.1:c.*450G>A NP_001159648.1:n.*450G>A
NM_004387.3:c.651G>A NP_004378.1:p.Arg217=
NM_004387.4:c.651G>A MANE Select NP_004378.1:p.Arg217=
NM_001166175.2:c.*604G>A NP_001159647.1:n.*604G>A
NM_001166176.2:c.*450G>A NP_001159648.1:n.*450G>A
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