Canonical Allele Identifier: CA212679
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 30115
ClinVar RCV Id: RCV000023023 RCV000421219 RCV000539285 RCV002408478 RCV002490404
dbSNP Id: rs375086983
ExAC: 5:172659699 G / T
gnomAD v2: 5-172659699-G-T
gnomAD v3: 5-173232696-G-T
gnomAD v4: 5-173232696-G-T
MyVariant Identifiers: chr5:g.172659699G>T (hg19) chr5:g.173232696G>T (hg38)
PubMed: PMID:21110066
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232696G>T , CM000667.2:g.173232696G>T GRCh38
NC_000005.9:g.172659699G>T , CM000667.1:g.172659699G>T GRCh37
NC_000005.8:g.172592305G>T NCBI36
NG_013340.1:g.7617C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.848C>A MANE Select ENSP00000327758.4:p.Pro283Gln
ENST00000329198.4:c.848C>A ENSP00000327758.4:p.Pro283Gln
NM_001166175.1:c.*801C>A NP_001159647.1:n.*801C>A
NM_001166176.1:c.*647C>A NP_001159648.1:n.*647C>A
NM_004387.3:c.848C>A NP_004378.1:p.Pro283Gln
NM_004387.4:c.848C>A MANE Select NP_004378.1:p.Pro283Gln
NM_001166175.2:c.*801C>A NP_001159647.1:n.*801C>A
NM_001166176.2:c.*647C>A NP_001159648.1:n.*647C>A
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