Canonical Allele Identifier: CA1114440650

Gene: CHD7

Linked Data

• dbSNP Id: rs977299820
• gnomAD v3: 8-60861273-G-C
• gnomAD v4: 8-60861273-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861273G>C , CM000670.2:g.60861273G>C	GRCh38
NC_000008.10:g.61773832G>C , CM000670.1:g.61773832G>C	GRCh37
NC_000008.9:g.61936386G>C	NCBI36
NG_007009.1:g.187494G>C , LRG_176:g.187494G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1006+148G>C
ENST00000695851.1:n.210+148G>C
ENST00000695853.1:c.*889+148G>C	ENSP00000512218.1:n.*889+148G>C
ENST00000423902.7:c.7830+148G>C MANE Select	ENSP00000392028.1:n.7830+148G>C
ENST00000423902.6:c.7830+148G>C	ENSP00000392028.1:n.7830+148G>C
ENST00000524602.5:c.1717-956G>C	ENSP00000437061.1:n.1717-956G>C
ENST00000531695.1:n.402G>C
ENST00000618450.1:n.370G>C
NM_001316690.1:c.1717-956G>C	NP_001303619.1:n.1717-956G>C
NM_017780.3:c.7830+148G>C	NP_060250.2:n.7830+148G>C
XM_011517553.1:c.7920+148G>C	XP_011515855.1:n.7920+148G>C
XM_011517554.1:c.7920+148G>C	XP_011515856.1:n.7920+148G>C
XM_011517555.1:c.7917+148G>C	XP_011515857.1:n.7917+148G>C
XM_011517556.1:c.7699-923G>C	XP_011515858.1:n.7699-923G>C
XM_011517557.1:c.5907+148G>C	XP_011515859.1:n.5907+148G>C
XM_011517558.1:c.5457+148G>C	XP_011515860.1:n.5457+148G>C
XM_011517559.1:c.4665+148G>C	XP_011515861.1:n.4665+148G>C
XM_011517553.2:c.7920+148G>C	XP_011515855.1:n.7920+148G>C
XM_011517554.3:c.7920+148G>C	XP_011515856.1:n.7920+148G>C
XM_011517555.2:c.7917+148G>C	XP_011515857.1:n.7917+148G>C
XM_017013612.1:c.7920+148G>C	XP_016869101.1:n.7920+148G>C
XM_017013613.1:c.7827+148G>C	XP_016869102.1:n.7827+148G>C
NM_017780.4:c.7830+148G>C MANE Select	NP_060250.2:n.7830+148G>C