Canonical Allele Identifier: CA1114432384

Gene: CHD7

Linked Data

• dbSNP Id: rs1805319784
• gnomAD v3: 8-60848714-C-CT
• gnomAD v4: 8-60848714-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848720dup , CM000670.2:g.60848720dup	GRCh38
NC_000008.10:g.61761279dup , CM000670.1:g.61761279dup	GRCh37
NC_000008.9:g.61923833dup	NCBI36
NG_007009.1:g.174941dup , LRG_176:g.174941dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5300+116dup	ENSP00000512218.1:n.5300+116dup
ENST00000423902.7:c.5300+116dup MANE Select	ENSP00000392028.1:n.5300+116dup
ENST00000423902.6:c.5300+116dup	ENSP00000392028.1:n.5300+116dup
ENST00000524602.5:c.1717-13509dup	ENSP00000437061.1:n.1717-13509dup
NM_001316690.1:c.1717-13509dup	NP_001303619.1:n.1717-13509dup
NM_017780.3:c.5300+116dup	NP_060250.2:n.5300+116dup
XM_011517553.1:c.5390+116dup	XP_011515855.1:n.5390+116dup
XM_011517554.1:c.5390+116dup	XP_011515856.1:n.5390+116dup
XM_011517555.1:c.5390+116dup	XP_011515857.1:n.5390+116dup
XM_011517556.1:c.5390+116dup	XP_011515858.1:n.5390+116dup
XM_011517557.1:c.3377+116dup	XP_011515859.1:n.3377+116dup
XM_011517558.1:c.2927+116dup	XP_011515860.1:n.2927+116dup
XM_011517559.1:c.2135+116dup	XP_011515861.1:n.2135+116dup
XM_011517553.2:c.5390+116dup	XP_011515855.1:n.5390+116dup
XM_011517554.3:c.5390+116dup	XP_011515856.1:n.5390+116dup
XM_011517555.2:c.5390+116dup	XP_011515857.1:n.5390+116dup
XM_017013612.1:c.5390+116dup	XP_016869101.1:n.5390+116dup
XM_017013613.1:c.5300+116dup	XP_016869102.1:n.5300+116dup
NM_017780.4:c.5300+116dup MANE Select	NP_060250.2:n.5300+116dup