Canonical Allele Identifier: CA371307395

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777650G>T (hg19) ; chr8:g.60865091G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865091G>T , CM000670.2:g.60865091G>T	GRCh38
NC_000008.10:g.61777650G>T , CM000670.1:g.61777650G>T	GRCh37
NC_000008.9:g.61940204G>T	NCBI36
NG_007009.1:g.191312G>T , LRG_176:g.191312G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1328G>T
ENST00000695852.1:n.259G>T
ENST00000695853.1:c.*1211G>T	ENSP00000512218.1:n.*1211G>T
ENST00000423902.7:c.8152G>T MANE Select	ENSP00000392028.1:p.Gly2718Ter
ENST00000423902.6:c.8152G>T	ENSP00000392028.1:p.Gly2718Ter
ENST00000524602.5:c.2005G>T	ENSP00000437061.1:p.Gly669Ter
ENST00000528280.1:n.198G>T
ENST00000532149.1:n.574G>T
ENST00000618450.1:n.4188G>T
NM_001316690.1:c.2005G>T	NP_001303619.1:p.Gly669Ter
NM_017780.3:c.8152G>T	NP_060250.2:p.Gly2718Ter
XM_011517553.1:c.8242G>T	XP_011515855.1:p.Gly2748Ter
XM_011517554.1:c.8242G>T	XP_011515856.1:p.Gly2748Ter
XM_011517555.1:c.8239G>T	XP_011515857.1:p.Gly2747Ter
XM_011517556.1:c.8020G>T	XP_011515858.1:p.Gly2674Ter
XM_011517557.1:c.6229G>T	XP_011515859.1:p.Gly2077Ter
XM_011517558.1:c.5779G>T	XP_011515860.1:p.Gly1927Ter
XM_011517559.1:c.4987G>T	XP_011515861.1:p.Gly1663Ter
XM_011517553.2:c.8242G>T	XP_011515855.1:p.Gly2748Ter
XM_011517554.3:c.8242G>T	XP_011515856.1:p.Gly2748Ter
XM_011517555.2:c.8239G>T	XP_011515857.1:p.Gly2747Ter
XM_017013612.1:c.8242G>T	XP_016869101.1:p.Gly2748Ter
XM_017013613.1:c.8149G>T	XP_016869102.1:p.Gly2717Ter
NM_017780.4:c.8152G>T MANE Select	NP_060250.2:p.Gly2718Ter