Canonical Allele Identifier: CA371308603

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777849C>T (hg19) ; chr8:g.60865290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865290C>T , CM000670.2:g.60865290C>T	GRCh38
NC_000008.10:g.61777849C>T , CM000670.1:g.61777849C>T	GRCh37
NC_000008.9:g.61940403C>T	NCBI36
NG_007009.1:g.191511C>T , LRG_176:g.191511C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1527C>T
ENST00000695852.1:n.458C>T
ENST00000695853.1:c.*1410C>T	ENSP00000512218.1:n.*1410C>T
ENST00000423902.7:c.8351C>T MANE Select	ENSP00000392028.1:p.Thr2784Ile
ENST00000423902.6:c.8351C>T	ENSP00000392028.1:p.Thr2784Ile
ENST00000524602.5:c.2204C>T	ENSP00000437061.1:p.Thr735Ile
ENST00000528280.1:n.397C>T
NM_001316690.1:c.2204C>T	NP_001303619.1:p.Thr735Ile
NM_017780.3:c.8351C>T	NP_060250.2:p.Thr2784Ile
XM_011517553.1:c.8441C>T	XP_011515855.1:p.Thr2814Ile
XM_011517554.1:c.8441C>T	XP_011515856.1:p.Thr2814Ile
XM_011517555.1:c.8438C>T	XP_011515857.1:p.Thr2813Ile
XM_011517556.1:c.8219C>T	XP_011515858.1:p.Thr2740Ile
XM_011517557.1:c.6428C>T	XP_011515859.1:p.Thr2143Ile
XM_011517558.1:c.5978C>T	XP_011515860.1:p.Thr1993Ile
XM_011517559.1:c.5186C>T	XP_011515861.1:p.Thr1729Ile
XM_011517553.2:c.8441C>T	XP_011515855.1:p.Thr2814Ile
XM_011517554.3:c.8441C>T	XP_011515856.1:p.Thr2814Ile
XM_011517555.2:c.8438C>T	XP_011515857.1:p.Thr2813Ile
XM_017013612.1:c.8441C>T	XP_016869101.1:p.Thr2814Ile
XM_017013613.1:c.8348C>T	XP_016869102.1:p.Thr2783Ile
NM_017780.4:c.8351C>T MANE Select	NP_060250.2:p.Thr2784Ile