Canonical Allele Identifier: CA371304647

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773619A>G (hg19) ; chr8:g.60861060A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861060A>G , CM000670.2:g.60861060A>G	GRCh38
NC_000008.10:g.61773619A>G , CM000670.1:g.61773619A>G	GRCh37
NC_000008.9:g.61936173A>G	NCBI36
NG_007009.1:g.187281A>G , LRG_176:g.187281A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.941A>G
ENST00000695851.1:n.145A>G
ENST00000695853.1:c.*824A>G	ENSP00000512218.1:n.*824A>G
ENST00000423902.7:c.7765A>G MANE Select	ENSP00000392028.1:p.Lys2589Glu
ENST00000423902.6:c.7765A>G	ENSP00000392028.1:p.Lys2589Glu
ENST00000524602.5:c.1717-1169A>G	ENSP00000437061.1:n.1717-1169A>G
ENST00000531695.1:n.189A>G
ENST00000618450.1:n.157A>G
NM_001316690.1:c.1717-1169A>G	NP_001303619.1:n.1717-1169A>G
NM_017780.3:c.7765A>G	NP_060250.2:p.Lys2589Glu
XM_011517553.1:c.7855A>G	XP_011515855.1:p.Lys2619Glu
XM_011517554.1:c.7855A>G	XP_011515856.1:p.Lys2619Glu
XM_011517555.1:c.7852A>G	XP_011515857.1:p.Lys2618Glu
XM_011517556.1:c.7699-1136A>G	XP_011515858.1:n.7699-1136A>G
XM_011517557.1:c.5842A>G	XP_011515859.1:p.Lys1948Glu
XM_011517558.1:c.5392A>G	XP_011515860.1:p.Lys1798Glu
XM_011517559.1:c.4600A>G	XP_011515861.1:p.Lys1534Glu
XM_011517553.2:c.7855A>G	XP_011515855.1:p.Lys2619Glu
XM_011517554.3:c.7855A>G	XP_011515856.1:p.Lys2619Glu
XM_011517555.2:c.7852A>G	XP_011515857.1:p.Lys2618Glu
XM_017013612.1:c.7855A>G	XP_016869101.1:p.Lys2619Glu
XM_017013613.1:c.7762A>G	XP_016869102.1:p.Lys2588Glu
NM_017780.4:c.7765A>G MANE Select	NP_060250.2:p.Lys2589Glu