Canonical Allele Identifier: CA355734163
Gene: KNG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186742113A>T , CM000665.2:g.186742113A>T GRCh38
NC_000003.11:g.186459902A>T , CM000665.1:g.186459902A>T GRCh37
NC_000003.10:g.187942596A>T NCBI36
NG_016009.1:g.29805A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287611.8:c.1203+514A>T ENSP00000287611.2:n.1203+514A>T
ENST00000644859.2:c.1717A>T MANE Select ENSP00000493985.1:p.Met573Leu
ENST00000265023.8:c.1717A>T ENSP00000265023.4:p.Met573Leu
ENST00000287611.6:c.1203+514A>T ENSP00000287611.2:n.1203+514A>T
ENST00000447445.1:c.1095+514A>T ENSP00000396025.1:n.1095+514A>T
NM_000893.3:c.1203+514A>T NP_000884.1:n.1203+514A>T
NM_001102416.2:c.1717A>T NP_001095886.1:p.Met573Leu
NM_001166451.1:c.1095+514A>T NP_001159923.1:n.1095+514A>T
NM_000893.4:c.1203+514A>T NP_000884.1:n.1203+514A>T
NM_001102416.3:c.1717A>T MANE Select NP_001095886.1:p.Met573Leu
NM_001166451.2:c.1095+514A>T NP_001159923.1:n.1095+514A>T