Canonical Allele Identifier: CA148888

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856636A>G , CM000670.2:g.60856636A>G	GRCh38
NC_000008.10:g.61769195A>G , CM000670.1:g.61769195A>G	GRCh37
NC_000008.9:g.61931749A>G	NCBI36
NG_007009.1:g.182857A>G , LRG_176:g.182857A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.532A>G
ENST00000695853.1:c.*415A>G	ENSP00000512218.1:n.*415A>G
ENST00000423902.7:c.7356A>G MANE Select	ENSP00000392028.1:p.Thr2452=
ENST00000423902.6:c.7356A>G	ENSP00000392028.1:p.Thr2452=
ENST00000524602.5:c.1717-5593A>G	ENSP00000437061.1:n.1717-5593A>G
ENST00000529472.1:n.537A>G
NM_001316690.1:c.1717-5593A>G	NP_001303619.1:n.1717-5593A>G
NM_017780.3:c.7356A>G	NP_060250.2:p.Thr2452=
XM_011517553.1:c.7446A>G	XP_011515855.1:p.Thr2482=
XM_011517554.1:c.7446A>G	XP_011515856.1:p.Thr2482=
XM_011517555.1:c.7443A>G	XP_011515857.1:p.Thr2481=
XM_011517556.1:c.7446A>G	XP_011515858.1:p.Thr2482=
XM_011517557.1:c.5433A>G	XP_011515859.1:p.Thr1811=
XM_011517558.1:c.4983A>G	XP_011515860.1:p.Thr1661=
XM_011517559.1:c.4191A>G	XP_011515861.1:p.Thr1397=
XM_011517553.2:c.7446A>G	XP_011515855.1:p.Thr2482=
XM_011517554.3:c.7446A>G	XP_011515856.1:p.Thr2482=
XM_011517555.2:c.7443A>G	XP_011515857.1:p.Thr2481=
XM_017013612.1:c.7446A>G	XP_016869101.1:p.Thr2482=
XM_017013613.1:c.7353A>G	XP_016869102.1:p.Thr2451=
NM_017780.4:c.7356A>G MANE Select	NP_060250.2:p.Thr2452=