Canonical Allele Identifier: CA132260367
Gene: NKX2-5 HGNC NCBI
ClinVar RCV:
RCV000644447
ClinVar Variation:
536134
dbSNP:
904474688
gnomAD v3:
5:173234843 T / C
gnomAD v4:
chr5-173234843-T-C
Joint Max Group AF 8e-7 (NFE)
Exomes Max Group AF 7.3e-7 (NFE)
MyVariant.info:
GRCh38 chr5:g.173234843T>C
GRCh37 chr5:g.172661846T>C
Revel Score:
ENST00000329198 (MANE Select) 0.330
ENST00000424406 0.330
ENST00000521848 0.330
ENST00000517440 0.330
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173234843T>C , CM000667.2:g.173234843T>C GRCh38
NC_000005.9:g.172661846T>C , CM000667.1:g.172661846T>C GRCh37
NC_000005.8:g.172594452T>C NCBI36
NG_013340.1:g.5470A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.241A>G MANE Select ENSP00000327758.4:p.Lys81Glu
ENST00000329198.4:c.241A>G ENSP00000327758.4:p.Lys81Glu
ENST00000424406.2:c.241A>G ENSP00000395378.2:p.Lys81Glu
ENST00000517440.1:c.241A>G ENSP00000429905.1:p.Lys81Glu
ENST00000521848.1:c.241A>G ENSP00000427906.1:p.Lys81Glu
NM_001166175.1:c.241A>G NP_001159647.1:p.Lys81Glu
NM_001166176.1:c.241A>G NP_001159648.1:p.Lys81Glu
NM_004387.3:c.241A>G NP_004378.1:p.Lys81Glu
XM_017009071.2:c.241A>G XP_016864560.1:p.Lys81Glu
NM_004387.4:c.241A>G MANE Select NP_004378.1:p.Lys81Glu
NM_001166175.2:c.241A>G NP_001159647.1:p.Lys81Glu
NM_001166176.2:c.241A>G NP_001159648.1:p.Lys81Glu
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