Canonical Allele Identifier: CA460846479

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773552C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860993C>T , CM000670.2:g.60860993C>T	GRCh38
NC_000008.10:g.61773552C>T , CM000670.1:g.61773552C>T	GRCh37
NC_000008.9:g.61936106C>T	NCBI36
NG_007009.1:g.187214C>T , LRG_176:g.187214C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.874C>T
ENST00000695851.1:n.78C>T
ENST00000695853.1:c.*757C>T	ENSP00000512218.1:n.*757C>T
ENST00000423902.7:c.7698C>T MANE Select	ENSP00000392028.1:p.Asp2566=
ENST00000423902.6:c.7698C>T	ENSP00000392028.1:p.Asp2566=
ENST00000524602.5:c.1717-1236C>T	ENSP00000437061.1:n.1717-1236C>T
ENST00000531695.1:n.122C>T
ENST00000618450.1:n.90C>T
NM_001316690.1:c.1717-1236C>T	NP_001303619.1:n.1717-1236C>T
NM_017780.3:c.7698C>T	NP_060250.2:p.Asp2566=
XM_011517553.1:c.7788C>T	XP_011515855.1:p.Asp2596=
XM_011517554.1:c.7788C>T	XP_011515856.1:p.Asp2596=
XM_011517555.1:c.7785C>T	XP_011515857.1:p.Asp2595=
XM_011517556.1:c.7699-1203C>T	XP_011515858.1:n.7699-1203C>T
XM_011517557.1:c.5775C>T	XP_011515859.1:p.Asp1925=
XM_011517558.1:c.5325C>T	XP_011515860.1:p.Asp1775=
XM_011517559.1:c.4533C>T	XP_011515861.1:p.Asp1511=
XM_011517553.2:c.7788C>T	XP_011515855.1:p.Asp2596=
XM_011517554.3:c.7788C>T	XP_011515856.1:p.Asp2596=
XM_011517555.2:c.7785C>T	XP_011515857.1:p.Asp2595=
XM_017013612.1:c.7788C>T	XP_016869101.1:p.Asp2596=
XM_017013613.1:c.7695C>T	XP_016869102.1:p.Asp2565=
NM_017780.4:c.7698C>T MANE Select	NP_060250.2:p.Asp2566=