Canonical Allele Identifier: CA370602770
Gene: NKX2-6 HGNC NCBI

Linked Data

gnomAD v4: 8-23702812-T-C
MyVariant Identifiers: chr8:g.23560325T>C (hg19) chr8:g.23702812T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.23702812T>C , CM000670.2:g.23702812T>C GRCh38
NC_000008.10:g.23560325T>C , CM000670.1:g.23560325T>C GRCh37
NC_000008.9:g.23616270T>C NCBI36
NG_030636.1:g.8787A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000325017.4:c.545A>G MANE Select ENSP00000320089.3:p.Asn182Ser
ENST00000325017.3:c.545A>G ENSP00000320089.3:p.Asn182Ser
NM_001136271.2:c.545A>G NP_001129743.2:p.Asn182Ser
XR_001745842.1:n.1312+34062T>C
NM_001136271.3:c.545A>G MANE Select NP_001129743.2:p.Asn182Ser
Search 100 bp 5'
Search 100 bp 3'