Canonical Allele Identifier: CA355734359

Gene: KNG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186742138T>A , CM000665.2:g.186742138T>A	GRCh38
NC_000003.11:g.186459927T>A , CM000665.1:g.186459927T>A	GRCh37
NC_000003.10:g.187942621T>A	NCBI36
NG_016009.1:g.29830T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001102416.3:c.1742T>A MANE Select	NP_001095886.1:p.Ile581Lys
ENST00000644859.2:c.1742T>A MANE Select	ENSP00000493985.1:p.Ile581Lys
NM_000893.3:c.1203+539T>A	NP_000884.1:n.1203+539T>A
NM_000893.4:c.1203+539T>A	NP_000884.1:n.1203+539T>A
NM_001102416.2:c.1742T>A	NP_001095886.1:p.Ile581Lys
NM_001166451.1:c.1095+539T>A	NP_001159923.1:n.1095+539T>A
NM_001166451.2:c.1095+539T>A	NP_001159923.1:n.1095+539T>A
ENST00000265023.8:c.1742T>A	ENSP00000265023.4:p.Ile581Lys
ENST00000287611.6:c.1203+539T>A	ENSP00000287611.2:n.1203+539T>A
ENST00000287611.8:c.1203+539T>A	ENSP00000287611.2:n.1203+539T>A
ENST00000447445.1:c.1095+539T>A	ENSP00000396025.1:n.1095+539T>A