Canonical Allele Identifier: CA371307370

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865086-G-A
• MyVariant Identifiers: chr8:g.61777645G>A (hg19) ; chr8:g.60865086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865086G>A , CM000670.2:g.60865086G>A	GRCh38
NC_000008.10:g.61777645G>A , CM000670.1:g.61777645G>A	GRCh37
NC_000008.9:g.61940199G>A	NCBI36
NG_007009.1:g.191307G>A , LRG_176:g.191307G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1323G>A
ENST00000695852.1:n.254G>A
ENST00000695853.1:c.*1206G>A	ENSP00000512218.1:n.*1206G>A
ENST00000423902.7:c.8147G>A MANE Select	ENSP00000392028.1:p.Arg2716Lys
ENST00000423902.6:c.8147G>A	ENSP00000392028.1:p.Arg2716Lys
ENST00000524602.5:c.2000G>A	ENSP00000437061.1:p.Arg667Lys
ENST00000528280.1:n.193G>A
ENST00000532149.1:n.569G>A
ENST00000618450.1:n.4183G>A
NM_001316690.1:c.2000G>A	NP_001303619.1:p.Arg667Lys
NM_017780.3:c.8147G>A	NP_060250.2:p.Arg2716Lys
XM_011517553.1:c.8237G>A	XP_011515855.1:p.Arg2746Lys
XM_011517554.1:c.8237G>A	XP_011515856.1:p.Arg2746Lys
XM_011517555.1:c.8234G>A	XP_011515857.1:p.Arg2745Lys
XM_011517556.1:c.8015G>A	XP_011515858.1:p.Arg2672Lys
XM_011517557.1:c.6224G>A	XP_011515859.1:p.Arg2075Lys
XM_011517558.1:c.5774G>A	XP_011515860.1:p.Arg1925Lys
XM_011517559.1:c.4982G>A	XP_011515861.1:p.Arg1661Lys
XM_011517553.2:c.8237G>A	XP_011515855.1:p.Arg2746Lys
XM_011517554.3:c.8237G>A	XP_011515856.1:p.Arg2746Lys
XM_011517555.2:c.8234G>A	XP_011515857.1:p.Arg2745Lys
XM_017013612.1:c.8237G>A	XP_016869101.1:p.Arg2746Lys
XM_017013613.1:c.8144G>A	XP_016869102.1:p.Arg2715Lys
NM_017780.4:c.8147G>A MANE Select	NP_060250.2:p.Arg2716Lys