Canonical Allele Identifier: CA371307493

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777668G>A (hg19) ; chr8:g.60865109G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865109G>A , CM000670.2:g.60865109G>A	GRCh38
NC_000008.10:g.61777668G>A , CM000670.1:g.61777668G>A	GRCh37
NC_000008.9:g.61940222G>A	NCBI36
NG_007009.1:g.191330G>A , LRG_176:g.191330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1346G>A
ENST00000695852.1:n.277G>A
ENST00000695853.1:c.*1229G>A	ENSP00000512218.1:n.*1229G>A
ENST00000423902.7:c.8170G>A MANE Select	ENSP00000392028.1:p.Glu2724Lys
ENST00000423902.6:c.8170G>A	ENSP00000392028.1:p.Glu2724Lys
ENST00000524602.5:c.2023G>A	ENSP00000437061.1:p.Glu675Lys
ENST00000528280.1:n.216G>A
ENST00000532149.1:n.592G>A
ENST00000618450.1:n.4206G>A
NM_001316690.1:c.2023G>A	NP_001303619.1:p.Glu675Lys
NM_017780.3:c.8170G>A	NP_060250.2:p.Glu2724Lys
XM_011517553.1:c.8260G>A	XP_011515855.1:p.Glu2754Lys
XM_011517554.1:c.8260G>A	XP_011515856.1:p.Glu2754Lys
XM_011517555.1:c.8257G>A	XP_011515857.1:p.Glu2753Lys
XM_011517556.1:c.8038G>A	XP_011515858.1:p.Glu2680Lys
XM_011517557.1:c.6247G>A	XP_011515859.1:p.Glu2083Lys
XM_011517558.1:c.5797G>A	XP_011515860.1:p.Glu1933Lys
XM_011517559.1:c.5005G>A	XP_011515861.1:p.Glu1669Lys
XM_011517553.2:c.8260G>A	XP_011515855.1:p.Glu2754Lys
XM_011517554.3:c.8260G>A	XP_011515856.1:p.Glu2754Lys
XM_011517555.2:c.8257G>A	XP_011515857.1:p.Glu2753Lys
XM_017013612.1:c.8260G>A	XP_016869101.1:p.Glu2754Lys
XM_017013613.1:c.8167G>A	XP_016869102.1:p.Glu2723Lys
NM_017780.4:c.8170G>A MANE Select	NP_060250.2:p.Glu2724Lys