Canonical Allele Identifier: CA371304346

Gene: CHD7

Linked Data

• dbSNP Id: rs1429070313
• gnomAD v2: 8-61773518-G-A
• gnomAD v4: 8-60860959-G-A
• MyVariant Identifiers: chr8:g.61773518G>A (hg19) ; chr8:g.60860959G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860959G>A , CM000670.2:g.60860959G>A	GRCh38
NC_000008.10:g.61773518G>A , CM000670.1:g.61773518G>A	GRCh37
NC_000008.9:g.61936072G>A	NCBI36
NG_007009.1:g.187180G>A , LRG_176:g.187180G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.840G>A
ENST00000695851.1:n.44G>A
ENST00000695853.1:c.*723G>A	ENSP00000512218.1:n.*723G>A
ENST00000423902.7:c.7664G>A MANE Select	ENSP00000392028.1:p.Arg2555Lys
ENST00000423902.6:c.7664G>A	ENSP00000392028.1:p.Arg2555Lys
ENST00000524602.5:c.1717-1270G>A	ENSP00000437061.1:n.1717-1270G>A
ENST00000531695.1:n.88G>A
ENST00000618450.1:n.56G>A
NM_001316690.1:c.1717-1270G>A	NP_001303619.1:n.1717-1270G>A
NM_017780.3:c.7664G>A	NP_060250.2:p.Arg2555Lys
XM_011517553.1:c.7754G>A	XP_011515855.1:p.Arg2585Lys
XM_011517554.1:c.7754G>A	XP_011515856.1:p.Arg2585Lys
XM_011517555.1:c.7751G>A	XP_011515857.1:p.Arg2584Lys
XM_011517556.1:c.7699-1237G>A	XP_011515858.1:n.7699-1237G>A
XM_011517557.1:c.5741G>A	XP_011515859.1:p.Arg1914Lys
XM_011517558.1:c.5291G>A	XP_011515860.1:p.Arg1764Lys
XM_011517559.1:c.4499G>A	XP_011515861.1:p.Arg1500Lys
XM_011517553.2:c.7754G>A	XP_011515855.1:p.Arg2585Lys
XM_011517554.3:c.7754G>A	XP_011515856.1:p.Arg2585Lys
XM_011517555.2:c.7751G>A	XP_011515857.1:p.Arg2584Lys
XM_017013612.1:c.7754G>A	XP_016869101.1:p.Arg2585Lys
XM_017013613.1:c.7661G>A	XP_016869102.1:p.Arg2554Lys
NM_017780.4:c.7664G>A MANE Select	NP_060250.2:p.Arg2555Lys