Canonical Allele Identifier: CA14903578
Gene: PKNOX1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43028608C>T , CM000683.2:g.43028608C>T GRCh38
NC_000021.8:g.44448718C>T , CM000683.1:g.44448718C>T GRCh37
NC_000021.7:g.43321787C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000291547.10:c.927-94C>T MANE Select ENSP00000291547.4:n.927-94C>T
ENST00000291547.9:c.927-94C>T ENSP00000291547.4:n.927-94C>T
ENST00000432907.6:c.576-94C>T ENSP00000402243.2:n.576-94C>T
ENST00000474336.5:n.359-94C>T
ENST00000557820.5:n.305-94C>T
ENST00000558955.2:n.132-94C>T
ENST00000560448.5:c.*569-94C>T ENSP00000453486.1:n.*569-94C>T
ENST00000607049.5:n.230-7C>T
ENST00000607150.1:n.378-94C>T
NM_001286258.1:c.576-94C>T NP_001273187.1:n.576-94C>T
NM_004571.4:c.927-94C>T NP_004562.2:n.927-94C>T
XM_011529604.1:c.924-94C>T XP_011527906.1:n.924-94C>T
NM_001320694.1:c.924-94C>T NP_001307623.1:n.924-94C>T
NM_001320694.2:c.924-94C>T NP_001307623.1:n.924-94C>T
NM_004571.5:c.927-94C>T MANE Select NP_004562.2:n.927-94C>T
NM_001286258.2:c.576-94C>T NP_001273187.1:n.576-94C>T