Canonical Allele Identifier: CA12091230
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1201176
ClinVar RCV Id: RCV001566432
dbSNP Id: rs191625345
gnomAD v2: 5-172659375-C-G
gnomAD v3: 5-173232372-C-G
gnomAD v4: 5-173232372-C-G
MyVariant Identifiers: chr5:g.172659375C>G (hg19) chr5:g.173232372C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232372C>G , CM000667.2:g.173232372C>G GRCh38
NC_000005.9:g.172659375C>G , CM000667.1:g.172659375C>G GRCh37
NC_000005.8:g.172591981C>G NCBI36
NG_013340.1:g.7941G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.*197G>C MANE Select ENSP00000327758.4:n.*197G>C
ENST00000329198.4:c.*197G>C ENSP00000327758.4:n.*197G>C
NM_001166175.1:c.*1125G>C NP_001159647.1:n.*1125G>C
NM_001166176.1:c.*971G>C NP_001159648.1:n.*971G>C
NM_004387.3:c.*197G>C NP_004378.1:n.*197G>C
NM_004387.4:c.*197G>C MANE Select NP_004378.1:n.*197G>C
NM_001166175.2:c.*1125G>C NP_001159647.1:n.*1125G>C
NM_001166176.2:c.*971G>C NP_001159648.1:n.*971G>C
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