Canonical Allele Identifier: CA371307565

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777677A>G (hg19) ; chr8:g.60865118A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865118A>G , CM000670.2:g.60865118A>G	GRCh38
NC_000008.10:g.61777677A>G , CM000670.1:g.61777677A>G	GRCh37
NC_000008.9:g.61940231A>G	NCBI36
NG_007009.1:g.191339A>G , LRG_176:g.191339A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1355A>G
ENST00000695852.1:n.286A>G
ENST00000695853.1:c.*1238A>G	ENSP00000512218.1:n.*1238A>G
ENST00000423902.7:c.8179A>G MANE Select	ENSP00000392028.1:p.Arg2727Gly
ENST00000423902.6:c.8179A>G	ENSP00000392028.1:p.Arg2727Gly
ENST00000524602.5:c.2032A>G	ENSP00000437061.1:p.Arg678Gly
ENST00000528280.1:n.225A>G
ENST00000532149.1:n.601A>G
ENST00000618450.1:n.4215A>G
NM_001316690.1:c.2032A>G	NP_001303619.1:p.Arg678Gly
NM_017780.3:c.8179A>G	NP_060250.2:p.Arg2727Gly
XM_011517553.1:c.8269A>G	XP_011515855.1:p.Arg2757Gly
XM_011517554.1:c.8269A>G	XP_011515856.1:p.Arg2757Gly
XM_011517555.1:c.8266A>G	XP_011515857.1:p.Arg2756Gly
XM_011517556.1:c.8047A>G	XP_011515858.1:p.Arg2683Gly
XM_011517557.1:c.6256A>G	XP_011515859.1:p.Arg2086Gly
XM_011517558.1:c.5806A>G	XP_011515860.1:p.Arg1936Gly
XM_011517559.1:c.5014A>G	XP_011515861.1:p.Arg1672Gly
XM_011517553.2:c.8269A>G	XP_011515855.1:p.Arg2757Gly
XM_011517554.3:c.8269A>G	XP_011515856.1:p.Arg2757Gly
XM_011517555.2:c.8266A>G	XP_011515857.1:p.Arg2756Gly
XM_017013612.1:c.8269A>G	XP_016869101.1:p.Arg2757Gly
XM_017013613.1:c.8176A>G	XP_016869102.1:p.Arg2726Gly
NM_017780.4:c.8179A>G MANE Select	NP_060250.2:p.Arg2727Gly