Canonical Allele Identifier: CA355733631
Gene: KNG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186742044T>A , CM000665.2:g.186742044T>A GRCh38
NC_000003.11:g.186459833T>A , CM000665.1:g.186459833T>A GRCh37
NC_000003.10:g.187942527T>A NCBI36
NG_016009.1:g.29736T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000287611.8:c.1203+445T>A ENSP00000287611.2:n.1203+445T>A
ENST00000644859.2:c.1648T>A MANE Select ENSP00000493985.1:p.Ser550Thr
ENST00000265023.8:c.1648T>A ENSP00000265023.4:p.Ser550Thr
ENST00000287611.6:c.1203+445T>A ENSP00000287611.2:n.1203+445T>A
ENST00000447445.1:c.1095+445T>A ENSP00000396025.1:n.1095+445T>A
NM_000893.3:c.1203+445T>A NP_000884.1:n.1203+445T>A
NM_001102416.2:c.1648T>A NP_001095886.1:p.Ser550Thr
NM_001166451.1:c.1095+445T>A NP_001159923.1:n.1095+445T>A
NM_000893.4:c.1203+445T>A NP_000884.1:n.1203+445T>A
NM_001102416.3:c.1648T>A MANE Select NP_001095886.1:p.Ser550Thr
NM_001166451.2:c.1095+445T>A NP_001159923.1:n.1095+445T>A