Canonical Allele Identifier: CA362161062
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 837477
ClinVar RCV Id: RCV001038821 RCV002409381 RCV002489557
dbSNP Id: rs1206339157
gnomAD v2: 5-172659705-G-T
gnomAD v3: 5-173232702-G-T
gnomAD v4: 5-173232702-G-T
MyVariant Identifiers: chr5:g.172659705G>T (hg19) chr5:g.173232702G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232702G>T , CM000667.2:g.173232702G>T GRCh38
NC_000005.9:g.172659705G>T , CM000667.1:g.172659705G>T GRCh37
NC_000005.8:g.172592311G>T NCBI36
NG_013340.1:g.7611C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.842C>A MANE Select ENSP00000327758.4:p.Ala281Glu
ENST00000329198.4:c.842C>A ENSP00000327758.4:p.Ala281Glu
NM_001166175.1:c.*795C>A NP_001159647.1:n.*795C>A
NM_001166176.1:c.*641C>A NP_001159648.1:n.*641C>A
NM_004387.3:c.842C>A NP_004378.1:p.Ala281Glu
NM_004387.4:c.842C>A MANE Select NP_004378.1:p.Ala281Glu
NM_001166175.2:c.*795C>A NP_001159647.1:n.*795C>A
NM_001166176.2:c.*641C>A NP_001159648.1:n.*641C>A
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