Canonical Allele Identifier: CA3563661
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1203227
ClinVar RCV Id: RCV001569194 RCV002368590
dbSNP Id: rs759339072
ExAC: 5:172659852 C / G
gnomAD v2: 5-172659852-C-G
gnomAD v4: 5-173232849-C-G
MyVariant Identifiers: chr5:g.172659852C>G (hg19) chr5:g.173232849C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232849C>G , CM000667.2:g.173232849C>G GRCh38
NC_000005.9:g.172659852C>G , CM000667.1:g.172659852C>G GRCh37
NC_000005.8:g.172592458C>G NCBI36
NG_013340.1:g.7464G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.695G>C MANE Select ENSP00000327758.4:p.Gly232Ala
ENST00000329198.4:c.695G>C ENSP00000327758.4:p.Gly232Ala
NM_001166175.1:c.*648G>C NP_001159647.1:n.*648G>C
NM_001166176.1:c.*494G>C NP_001159648.1:n.*494G>C
NM_004387.3:c.695G>C NP_004378.1:p.Gly232Ala
NM_004387.4:c.695G>C MANE Select NP_004378.1:p.Gly232Ala
NM_001166175.2:c.*648G>C NP_001159647.1:n.*648G>C
NM_001166176.2:c.*494G>C NP_001159648.1:n.*494G>C
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