Canonical Allele Identifier: CA370602988
Gene: NKX2-6 HGNC NCBI

Linked Data

gnomAD v4: 8-23702915-C-A
MyVariant Identifiers: chr8:g.23560428C>A (hg19) chr8:g.23702915C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.23702915C>A , CM000670.2:g.23702915C>A GRCh38
NC_000008.10:g.23560428C>A , CM000670.1:g.23560428C>A GRCh37
NC_000008.9:g.23616373C>A NCBI36
NG_030636.1:g.8684G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000325017.4:c.442G>T MANE Select ENSP00000320089.3:p.Glu148Ter
ENST00000325017.3:c.442G>T ENSP00000320089.3:p.Glu148Ter
NM_001136271.2:c.442G>T NP_001129743.2:p.Glu148Ter
XR_001745842.1:n.1312+34165C>A
NM_001136271.3:c.442G>T MANE Select NP_001129743.2:p.Glu148Ter
Search 100 bp 5'
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