Canonical Allele Identifier: CA1017616267

Gene: CHD6

Linked Data

• dbSNP Id: rs1846799917
• gnomAD v3: 20-41435942-A-C
• gnomAD v4: 20-41435942-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41435942A>C , CM000682.2:g.41435942A>C	GRCh38
NC_000020.10:g.40064582A>C , CM000682.1:g.40064582A>C	GRCh37
NC_000020.9:g.39497996A>C	NCBI36
NG_050686.1:g.187553T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373233.8:c.4068+1332T>G MANE Select	ENSP00000362330.3:n.4068+1332T>G
ENST00000373233.7:c.4068+1332T>G	ENSP00000362330.3:n.4068+1332T>G
ENST00000440697.5:c.1623+1332T>G
NM_032221.4:c.4068+1332T>G	NP_115597.3:n.4068+1332T>G
XM_005260573.1:c.4002+1332T>G	XP_005260630.1:n.4002+1332T>G
XM_005260574.2:c.3924+1332T>G	XP_005260631.1:n.3924+1332T>G
XM_005260575.2:c.4068+1332T>G	XP_005260632.1:n.4068+1332T>G
XM_005260576.3:c.20+1332T>G	XP_005260633.1:n.20+1332T>G
XM_006723883.2:c.4068+1332T>G	XP_006723946.1:n.4068+1332T>G
XM_011529080.1:c.4062+1332T>G	XP_011527382.1:n.4062+1332T>G
XM_011529081.1:c.4068+1332T>G	XP_011527383.1:n.4068+1332T>G
XM_011529082.1:c.2037+1332T>G	XP_011527384.1:n.2037+1332T>G
XM_005260573.2:c.4002+1332T>G	XP_005260630.1:n.4002+1332T>G
XM_005260576.4:c.20+1332T>G	XP_005260633.1:n.20+1332T>G
XM_011529080.2:c.4062+1332T>G	XP_011527382.1:n.4062+1332T>G
XM_011529082.2:c.2037+1332T>G	XP_011527384.1:n.2037+1332T>G
XM_017028099.2:c.4071+1332T>G	XP_016883588.1:n.4071+1332T>G
XM_017028100.1:c.4002+1332T>G	XP_016883589.1:n.4002+1332T>G
XM_017028101.1:c.3927+1332T>G	XP_016883590.1:n.3927+1332T>G
XM_017028102.1:c.4071+1332T>G	XP_016883591.1:n.4071+1332T>G
XM_017028103.1:c.3066+1332T>G	XP_016883592.1:n.3066+1332T>G
XM_017028104.1:c.4071+1332T>G	XP_016883593.1:n.4071+1332T>G
XR_001754421.2:n.5736+1332T>G
NM_032221.5:c.4068+1332T>G MANE Select	NP_115597.3:n.4068+1332T>G