Canonical Allele Identifier: CA461105718

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865081-G-T
• MyVariant Identifiers: chr8:g.61777640G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865081G>T , CM000670.2:g.60865081G>T	GRCh38
NC_000008.10:g.61777640G>T , CM000670.1:g.61777640G>T	GRCh37
NC_000008.9:g.61940194G>T	NCBI36
NG_007009.1:g.191302G>T , LRG_176:g.191302G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1318G>T
ENST00000695852.1:n.249G>T
ENST00000695853.1:c.*1201G>T	ENSP00000512218.1:n.*1201G>T
ENST00000423902.7:c.8142G>T MANE Select	ENSP00000392028.1:p.Ala2714=
ENST00000423902.6:c.8142G>T	ENSP00000392028.1:p.Ala2714=
ENST00000524602.5:c.1995G>T	ENSP00000437061.1:p.Ala665=
ENST00000528280.1:n.188G>T
ENST00000532149.1:n.564G>T
ENST00000618450.1:n.4178G>T
NM_001316690.1:c.1995G>T	NP_001303619.1:p.Ala665=
NM_017780.3:c.8142G>T	NP_060250.2:p.Ala2714=
XM_011517553.1:c.8232G>T	XP_011515855.1:p.Ala2744=
XM_011517554.1:c.8232G>T	XP_011515856.1:p.Ala2744=
XM_011517555.1:c.8229G>T	XP_011515857.1:p.Ala2743=
XM_011517556.1:c.8010G>T	XP_011515858.1:p.Ala2670=
XM_011517557.1:c.6219G>T	XP_011515859.1:p.Ala2073=
XM_011517558.1:c.5769G>T	XP_011515860.1:p.Ala1923=
XM_011517559.1:c.4977G>T	XP_011515861.1:p.Ala1659=
XM_011517553.2:c.8232G>T	XP_011515855.1:p.Ala2744=
XM_011517554.3:c.8232G>T	XP_011515856.1:p.Ala2744=
XM_011517555.2:c.8229G>T	XP_011515857.1:p.Ala2743=
XM_017013612.1:c.8232G>T	XP_016869101.1:p.Ala2744=
XM_017013613.1:c.8139G>T	XP_016869102.1:p.Ala2713=
NM_017780.4:c.8142G>T MANE Select	NP_060250.2:p.Ala2714=