Canonical Allele Identifier: CA1114432260

Gene: CHD7

Linked Data

• dbSNP Id: rs1805305463
• gnomAD v3: 8-60848430-A-G
• gnomAD v4: 8-60848430-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848430A>G , CM000670.2:g.60848430A>G	GRCh38
NC_000008.10:g.61760989A>G , CM000670.1:g.61760989A>G	GRCh37
NC_000008.9:g.61923543A>G	NCBI36
NG_007009.1:g.174651A>G , LRG_176:g.174651A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.5211-85A>G	ENSP00000512218.1:n.5211-85A>G
ENST00000423902.7:c.5211-85A>G MANE Select	ENSP00000392028.1:n.5211-85A>G
ENST00000423902.6:c.5211-85A>G	ENSP00000392028.1:n.5211-85A>G
ENST00000524602.5:c.1717-13799A>G	ENSP00000437061.1:n.1717-13799A>G
NM_001316690.1:c.1717-13799A>G	NP_001303619.1:n.1717-13799A>G
NM_017780.3:c.5211-85A>G	NP_060250.2:n.5211-85A>G
XM_011517553.1:c.5301-85A>G	XP_011515855.1:n.5301-85A>G
XM_011517554.1:c.5301-85A>G	XP_011515856.1:n.5301-85A>G
XM_011517555.1:c.5301-85A>G	XP_011515857.1:n.5301-85A>G
XM_011517556.1:c.5301-85A>G	XP_011515858.1:n.5301-85A>G
XM_011517557.1:c.3288-85A>G	XP_011515859.1:n.3288-85A>G
XM_011517558.1:c.2838-85A>G	XP_011515860.1:n.2838-85A>G
XM_011517559.1:c.2046-85A>G	XP_011515861.1:n.2046-85A>G
XM_011517553.2:c.5301-85A>G	XP_011515855.1:n.5301-85A>G
XM_011517554.3:c.5301-85A>G	XP_011515856.1:n.5301-85A>G
XM_011517555.2:c.5301-85A>G	XP_011515857.1:n.5301-85A>G
XM_017013612.1:c.5301-85A>G	XP_016869101.1:n.5301-85A>G
XM_017013613.1:c.5211-85A>G	XP_016869102.1:n.5211-85A>G
NM_017780.4:c.5211-85A>G MANE Select	NP_060250.2:n.5211-85A>G