Canonical Allele Identifier: CA2364375579

Gene: CHD6

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41435934G= , CM000682.2:g.41435934G=	GRCh38
NC_000020.10:g.40064574G= , CM000682.1:g.40064574G=	GRCh37
NC_000020.9:g.39497988G=	NCBI36
NG_050686.1:g.187561C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000373233.8:c.4068+1340C= MANE Select	ENSP00000362330.3:n.4068+1340C=
ENST00000373233.7:c.4068+1340C=	ENSP00000362330.3:n.4068+1340C=
ENST00000440697.5:c.1623+1340C=
NM_032221.4:c.4068+1340C=	NP_115597.3:n.4068+1340C=
XM_005260573.1:c.4002+1340C=	XP_005260630.1:n.4002+1340C=
XM_005260574.2:c.3924+1340C=	XP_005260631.1:n.3924+1340C=
XM_005260575.2:c.4068+1340C=	XP_005260632.1:n.4068+1340C=
XM_005260576.3:c.20+1340C=	XP_005260633.1:n.20+1340C=
XM_006723883.2:c.4068+1340C=	XP_006723946.1:n.4068+1340C=
XM_011529080.1:c.4062+1340C=	XP_011527382.1:n.4062+1340C=
XM_011529081.1:c.4068+1340C=	XP_011527383.1:n.4068+1340C=
XM_011529082.1:c.2037+1340C=	XP_011527384.1:n.2037+1340C=
XM_005260573.2:c.4002+1340C=	XP_005260630.1:n.4002+1340C=
XM_005260576.4:c.20+1340C=	XP_005260633.1:n.20+1340C=
XM_011529080.2:c.4062+1340C=	XP_011527382.1:n.4062+1340C=
XM_011529082.2:c.2037+1340C=	XP_011527384.1:n.2037+1340C=
XM_017028099.2:c.4071+1340C=	XP_016883588.1:n.4071+1340C=
XM_017028100.1:c.4002+1340C=	XP_016883589.1:n.4002+1340C=
XM_017028101.1:c.3927+1340C=	XP_016883590.1:n.3927+1340C=
XM_017028102.1:c.4071+1340C=	XP_016883591.1:n.4071+1340C=
XM_017028103.1:c.3066+1340C=	XP_016883592.1:n.3066+1340C=
XM_017028104.1:c.4071+1340C=	XP_016883593.1:n.4071+1340C=
XR_001754421.2:n.5736+1340C=
NM_032221.5:c.4068+1340C= MANE Select	NP_115597.3:n.4068+1340C=