Canonical Allele Identifier: CA5760560

Gene: KNDC1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133198698C>T , CM000672.2:g.133198698C>T	GRCh38
NC_000010.10:g.135012202C>T , CM000672.1:g.135012202C>T	GRCh37
NC_000010.9:g.134862192C>T	NCBI36
NG_053178.1:g.43603C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152643.8:c.2190C>T MANE Select	NP_689856.6:p.Asp730=
ENST00000304613.8:c.2190C>T MANE Select	ENSP00000304437.3:p.Asp730=
NM_152643.6:c.2190C>T	NP_689856.6:p.Asp730=
NM_152643.7:c.2190C>T	NP_689856.6:p.Asp730=
ENST00000304613.7:c.2190C>T	ENSP00000304437.3:p.Asp730=
ENST00000368571.2:c.1995C>T	ENSP00000357560.2:p.Asp665=
ENST00000368571.3:c.2190C>T	ENSP00000357560.3:p.Asp730=
ENST00000682119.1:c.1830C>T	ENSP00000506857.1:p.Asp610=
ENST00000683920.1:n.2285C>T
ENST00000684081.1:c.1830C>T	ENSP00000507504.1:p.Asp610=
ENST00000684127.1:n.3098C>T
ENST00000684244.1:c.1830C>T	ENSP00000507192.1:p.Asp610=
XM_017016858.2:c.2190C>T	XP_016872347.1:p.Asp730=
XM_017016859.2:c.2190C>T	XP_016872348.1:p.Asp730=