Canonical Allele Identifier: CA4677980
Gene: NKX2-6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1107854
ClinVar RCV Id: RCV001433124
dbSNP Id: rs552633150
ExAC: 8:23560426 C / T
gnomAD v2: 8-23560426-C-T
gnomAD v3: 8-23702913-C-T
gnomAD v4: 8-23702913-C-T
MyVariant Identifiers: chr8:g.23560426C>T (hg19) chr8:g.23702913C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.23702913C>T , CM000670.2:g.23702913C>T GRCh38
NC_000008.10:g.23560426C>T , CM000670.1:g.23560426C>T GRCh37
NC_000008.9:g.23616371C>T NCBI36
NG_030636.1:g.8686G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325017.4:c.444G>A MANE Select ENSP00000320089.3:p.Glu148=
ENST00000325017.3:c.444G>A ENSP00000320089.3:p.Glu148=
NM_001136271.2:c.444G>A NP_001129743.2:p.Glu148=
XR_001745842.1:n.1312+34163C>T
NM_001136271.3:c.444G>A MANE Select NP_001129743.2:p.Glu148=
Search 100 bp 5'
Search 100 bp 3'