Canonical Allele Identifier: CA1114428289

Gene: CHD7

Linked Data

• dbSNP Id: rs1804815097
• gnomAD v3: 8-60838034-T-C
• gnomAD v4: 8-60838034-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60838034T>C , CM000670.2:g.60838034T>C	GRCh38
NC_000008.10:g.61750593T>C , CM000670.1:g.61750593T>C	GRCh37
NC_000008.9:g.61913147T>C	NCBI36
NG_007009.1:g.164255T>C , LRG_176:g.164255T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.4354-42T>C	ENSP00000512218.1:n.4354-42T>C
ENST00000423902.7:c.4354-42T>C MANE Select	ENSP00000392028.1:n.4354-42T>C
ENST00000423902.6:c.4354-42T>C	ENSP00000392028.1:n.4354-42T>C
ENST00000524602.5:c.1717-24195T>C	ENSP00000437061.1:n.1717-24195T>C
NM_001316690.1:c.1717-24195T>C	NP_001303619.1:n.1717-24195T>C
NM_017780.3:c.4354-42T>C	NP_060250.2:n.4354-42T>C
XM_011517553.1:c.4354-42T>C	XP_011515855.1:n.4354-42T>C
XM_011517554.1:c.4354-42T>C	XP_011515856.1:n.4354-42T>C
XM_011517555.1:c.4354-42T>C	XP_011515857.1:n.4354-42T>C
XM_011517556.1:c.4354-42T>C	XP_011515858.1:n.4354-42T>C
XM_011517557.1:c.2341-42T>C	XP_011515859.1:n.2341-42T>C
XM_011517558.1:c.1891-42T>C	XP_011515860.1:n.1891-42T>C
XM_011517559.1:c.1099-42T>C	XP_011515861.1:n.1099-42T>C
XM_011517560.1:c.4354-42T>C	XP_011515862.1:n.4354-42T>C
XM_011517553.2:c.4354-42T>C	XP_011515855.1:n.4354-42T>C
XM_011517554.3:c.4354-42T>C	XP_011515856.1:n.4354-42T>C
XM_011517555.2:c.4354-42T>C	XP_011515857.1:n.4354-42T>C
XM_011517560.2:c.4354-42T>C	XP_011515862.1:n.4354-42T>C
XM_017013612.1:c.4354-42T>C	XP_016869101.1:n.4354-42T>C
XM_017013613.1:c.4354-42T>C	XP_016869102.1:n.4354-42T>C
NM_017780.4:c.4354-42T>C MANE Select	NP_060250.2:n.4354-42T>C